BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	NRG1
Previous Symbol	HGL, NRG1-IT2
Symbol Alias	HRG, NDF, GGF
Approved Name	neuregulin 1
Previous Name	NRG1 intronic transcript 2 (non-protein coding)
Location	8p12
Position	chr8:31639386-32767959, 1
External Links	HGNC: 7997 Entrez Gene: 3084 Ensembl: ENSG00000157168 UCSC: uc003xiu.2
No. of Studies	15 (Positive: 10; Negative: 5; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 15)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cao L., 2014	SNP: rs16879552, rs7825175, rs13260545, rs2466096, rs2466067, rs2466066, rs16879576, rs10954862, rs17665441, rs2439281, rs12056925, rs12547858, rs2439273, rs6468121, rs2466044, rs3808368, rs2976521, rs13259346, rs2466046, rs2439322, rs2919391, rs12541855, rs2466084, rs2976515, rs7835765, rs16879809, rs2919376, rs3757933, rs16879922, rs6982890 Haplotype: rs12056925 - rs12547858(A-A), rs12547858 - rs2439273(A-A), rs2439273 - rs6468121(A-A), rs6468121 - rs2466044(A-A), rs2439273 - rs6468121 - rs2466044(A-A-A), rs2439273 - rs6468121 - rs2466044 - rs3808368 - rs2976521(A-A-A-T-G)	The results suggest that the 3' region of the NRG1 gene plays a role in BPI susceptibility in the Chinese Han population.	Positive	Comment on Study
Prata, D. P.,2009	SNP: rs35753505, rs4623364 Other variant: NRG1_SNP8NRG241930	This study supports the hypothesis that NRG1 may play a role in the development of bipolar disorder, especially in psychotic subtypes, albeit with different alleles to previous association reports in schizophrenia and bipolar disorder.	Positive	Comment on Study
Cassidy, F., 2006	Haplotype: NRG1_420M9-1395 - NRG1_D8S1810(3-6), NRG1_478B14-848 - NRG1_420M9-1395(1-3), NRG1_478B14-848 - NRG1_420M9-1395 - NRG1_D8S1810(1-3-5), NRG1_SNP8NRG221533 - NRG1_478B14-848 - NRG1_420M9-1395(2-2-3), NRG1_SNP8NRG221533 - NRG1_SNP8NRG243177(2-2), NRG1_SNP8NRG221533 - NRG1_SNP8NRG243177 - NRG1_478B14-848 - NRG1_420M9-1395(1-1-2-3), NRG1_SNP8NRG243177 - NRG1_478B14-848(1-2) Other variant: NRG1_SNP8NRG221533, NRG1_D8S1810, NRG1_SNP8NRG243177, NRG1_478B14-848, NRG1_420M9-1395	These findings suggest that NRG1 is not a susceptibility gene for BPAD in the Irish population.	Positive	Comment on Study
Thomson, P. A., 2007	SNP: rs10091429, rs10093464, rs10095694, rs10096770, rs10103750, rs10113797, rs10503932, rs10954811, rs10954842, rs1481747, rs1481762, rs1487141, rs1503491, rs1545961, rs1948098, rs2347501, rs2439286, rs2439300, rs2439305, rs2919390, rs327329, rs3757930, rs4298458, rs4513929, rs4733132, rs4733140, rs553950, rs6468099, rs6986716, rs6988339, rs7007662, rs7015249, rs726908, rs901561, rs9656744, rs9886497 Haplotype: rs10095694 - rs2919390(), rs10095694 - rs2919390 - rs6988339(), rs10095694 - rs2919390 - rs6988339 - rs3757930(), rs10113797 - rs10954811 - rs1503491 - rs553950(), rs10954811 - rs1503491 - rs553950(), rs10954811 - rs1503491 - rs553950 - rs327329(), rs1503491 - rs553950(), rs1503491 - rs553950 - rs327329(T-T-T), rs1503491 - rs553950 - rs327329 - rs7007662(), rs2439286 - rs10095694(), rs2439286 - rs10095694 - rs2919390(), rs2439286 - rs10095694 - rs2919390 - rs6988339(), rs2439300 - rs2439286 - rs10095694 - rs2919390(), rs2439305 - rs2439300 - rs2439286 - rs10095694(), rs2919390 - rs6988339(), rs2919390 - rs6988339 - rs3757930(), rs2919390 - rs6988339 - rs3757930 - rs10103750(), rs327329 - rs7007662 - rs1481762(), rs327329 - rs7007662 - rs1481762 - rs726908(), rs3757930 - rs10103750(), rs3757930 - rs10103750 - rs10503932(), rs3757930 - rs10103750 - rs10503932 - rs9656744(), rs4298458 - SNP8NRG241930 - SNP8NRG243177 - rs10113797(), rs553950 - rs327329 - rs7007662(), rs553950 - rs327329 - rs7007662 - rs1481762(), rs6988339 - rs3757930(), rs6988339 - rs3757930 - rs10103750(), rs6988339 - rs3757930 - rs10103750 - rs10503932(), SNP8NRG221533 - rs4298458 - SNP8NRG241930 - SNP8NRG243177() Other variant: NRG1_SNP8NRG221132, NRG1_SNP8NRG221533, NRG1_SNP8NRG241930, NRG1_SNP8NRG243177	Our study identifies a new of NRG1 region involved in schizophrenia and bipolar disorder in the Scottish population.	Positive	Comment on Study
Perlis, 2008	SNP: rs1481743, rs16878388, rs2466089, rs3924999, rs967205	permuted P> .005 in gene-based association tests.	Negative	Comment on Study
Georgieva, L.,2008	SNP: rs7014762 Other variant: NRG1_420M9-1395, NRG1_478B14-848, NRG1_SNP88NR221533, NRG1_SNP8NRG241930, NRG1_SNP8NRG243177	Our data provide significant levels of support for NRG1 as a susceptibility gene for both major forms of psychosis	Positive	Comment on Study
Fallin, M. D.,2005		12 SNP typed, Median D'=0.26, Median r<sup>2</sup> =0.01, 6 LD blocks, 0.04 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs2919390, rs6988339	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Goes, F. S., 2009	SNP: rs1579033, rs2129533, rs7005606, rs7822564, rs7822917, rs901561 Haplotype: NRG2243177 - rs7819063(T-T), NRG241930 - NRG2243177 - rs7819063(G-T-T), rs2129533 - rs716144 - rs4317533 - rs10503906(G-G-G-G), rs4476964 - NRG241930 - NRG2243177 - rs7819063(G-G-T-T), rs6651144 - rs7005606(T-G)	In sum, our study suggests that NRG1 may be specifically associated with the psychotic subset of BP; however, our results should be interpreted cautiously since they do not meet correction for multiple testing and await independent replication.	Positive	Comment on Study
Green, E. K.,2005	Haplotype: SNP8NRG221533 - microsatellites478B14848 - microsatellites420M91395()	Our findings suggest that neuregulin 1 plays a role in influencing susceptibility to bipolar disorder and that it may exert a specific effect in the subset of functional psychosis that has manic and mood-incongruent psychotic features.	Positive	Comment on Study
Voineskos, D.,2009	Haplotype: 478B14-848 - 420M9-1395 - SNP8NRG221533( 10-4-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 5-7-2), 478B14-848 - 420M9-1395 - SNP8NRG221533( 5-8-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 5-8-2), 478B14-848 - 420M9-1395 - SNP8NRG221533( 6-3-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 6-3-2), 478B14-848 - 420M9-1395 - SNP8NRG221533( 6-4-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 6-4-2), 478B14-848 - 420M9-1395 - SNP8NRG221533( 6-7-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 6-8-2), 478B14-848 - 420M9-1395 - SNP8NRG221533( 7-3-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 7-4-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 7-6-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 7-6-2), 478B14-848 - 420M9-1395 - SNP8NRG221533( 7-7-1), 478B14-848 - 420M9-1395 - SNP8NRG221533( 7-7-2)	In conclusion, haplotype analysis for the bipolar disorder sample was significant, but we were unable to replicate previous associations of the core at-risk haplotype with schizophrenia and bipolar disorder.	Positive	Comment on Study
Pedrosa, E.,2009	SNP: rs7825588	A significant increase in homozygosity for the minor allele was found in patients with SZ (genotype distribution chi(2) = 7.32, p = 0.03) but not in BD (genotype distribution chi(2) = 0.52, p = 0.77).	Negative	Comment on Study
Walker, R. M.,2010	SNP: rs1503491, rs2919390, rs327329, rs3757930, rs553950, rs6988339 Haplotype: rs1503491 - rs553950(), rs1503491 - rs553950 - rs327329(), rs2919390 - rs6988339(), rs2919390 - rs6988339 - rs3757930(), rs553950 - rs327329(), rs6988339 - rs3757930()	This study supports the involvement of NRG1 variants in the less well studied 3 region in conferring susceptibility to SCZ and BPD in the Scottish population.	Positive	Comment on Study
Gutierrez-Fernandez, A., 2014	SNP: rs113317778, rs7005606, rs6468119 Haplotype: rs62510682 - rs6994992(G-T), rs62510682 - rs6994992(G-C), rs62510682 - rs6994992(T-C), rs7005606 - rs6468119 - rs3802158 - rs7834206 (T-T-C-C), rs7005606 - rs6468119 - rs3802158 - rs7834206 (G-C-T-A), rs7005606 - rs6468119 - rs3802158 - rs7834206 (T-C-C-C)	The current study provides evidence supporting the candidacy of NRG1 as a susceptibility gene in psychosis spectrum disorders, particularly BD.	Positive	Comment on Study
Moon, E.,2011	SNP: rs3924999, rs6994992	In conclusion, the present findings do not support association of the NRG1 variants in the CVCR population with schizophrenia or bipolar disorder.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 68)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	IEA	158
GO:0005634	nucleus	cellular component	IEA	283
GO:0016020	membrane	cellular component	NAS[8096067]	137
GO:0007399	nervous system development	biological process	TAS[17432114]	40
GO:0045087	innate immune response	biological process	TAS	49
GO:0005125	cytokine activity	molecular function	TAS[10372964]	13
GO:0005102	receptor binding	molecular function	IPI[7514177]	37

GO terms by database search (count: 61)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0048663	neuron fate commitment	biological process	IEA	2
GO:0003712	transcription cofactor activity	molecular function	IDA[15073182]	4
GO:0030424	axon	cellular component	IEA	39
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	biological process	IDA[7514177]	16
GO:0003161	cardiac conduction system development	biological process	IEA	2
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	biological process	IDA[9553078]	1
GO:0055012	ventricular cardiac muscle cell differentiation	biological process	IDA[9553078]	1
GO:0038127	ERBB signaling pathway	biological process	IDA[11389077]	1
GO:0060379	cardiac muscle cell myoblast differentiation	biological process	IDA[17336907]	1
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0007422	peripheral nervous system development	biological process	IEA	6
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	biological process	IDA[9553078]; NAS[1348215]	5
GO:0035556	intracellular signal transduction	biological process	IBA	38
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0051155	positive regulation of striated muscle cell differentiation	biological process	ISS	2
GO:0046579	positive regulation of Ras protein signal transduction	biological process	IEA	2
GO:0009790	embryo development	biological process	IEA	2
GO:0060045	positive regulation of cardiac muscle cell proliferation	biological process	IDA[9553078]	3
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0014032	neural crest cell development	biological process	TAS[17432114]	1
GO:0005176	ErbB-2 class receptor binding	molecular function	IEA	2
GO:0016477	cell migration	biological process	IEA	17
GO:0030296	protein tyrosine kinase activator activity	molecular function	IDA[7556068]	1
GO:0016324	apical plasma membrane	cellular component	IDA[12646923]	24
GO:0003222	ventricular trabecula myocardium morphogenesis	biological process	IDA[17336907]	1
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	biological process	IDA[9553078]	8
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0045785	positive regulation of cell adhesion	biological process	IDA[7556068]	4
GO:1903955	positive regulation of protein targeting to mitochondrion	biological process	IMP[24270810]	7
GO:0043624	cellular protein complex disassembly	biological process	IGI[15155732]	1
GO:0007416	synapse assembly	biological process	IEA	8
GO:0055007	cardiac muscle cell differentiation	biological process	ISS	2
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[15073182]	43
GO:0030879	mammary gland development	biological process	TAS[17432114]	5
GO:0051897	positive regulation of protein kinase B signaling	biological process	IEA	11
GO:0000165	MAPK cascade	biological process	IEA	10
GO:0042060	wound healing	biological process	IDA[12646923]; TAS[16412517]	9
GO:0008083	growth factor activity	molecular function	IDA[11389077]; NAS[8096067]	15
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0030971	receptor tyrosine kinase binding	molecular function	NAS[1348215]	3
GO:0060956	endocardial cell differentiation	biological process	IDA[17336907]	1
GO:0005576	extracellular region	cellular component	NAS[1348215]; TAS	97
GO:0045213	neurotransmitter receptor metabolic process	biological process	IEA	1
GO:0021781	glial cell fate commitment	biological process	IEA	1
GO:0000902	cell morphogenesis	biological process	IEA	3
GO:0061098	positive regulation of protein tyrosine kinase activity	biological process	IDA[7556068]	5
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	molecular function	IC[9553078]; NAS[1348215]	2
GO:2000727	positive regulation of cardiac muscle cell differentiation	biological process	IEA	1
GO:0043496	regulation of protein homodimerization activity	biological process	TAS[16412517]	2
GO:0051048	negative regulation of secretion	biological process	IDA[10559227]	1
GO:0005515	protein binding	molecular function	IPI[7592681]	563
GO:0030307	positive regulation of cell growth	biological process	IDA[9553078]	8
GO:0008283	cell proliferation	biological process	IDA[11389077]	37
GO:0005615	extracellular space	cellular component	IDA[11389077]	85
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0043497	regulation of protein heterodimerization activity	biological process	IDA[10559227]	2
GO:0031594	neuromuscular junction	cellular component	IEA	9
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0007154	cell communication	biological process	TAS[17432114]	2
GO:0043125	ErbB-3 class receptor binding	molecular function	IDA[7556068]; IPI[11389077]	2
GO:0042177	negative regulation of protein catabolic process	biological process	IEA	5

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04012	ErbB signaling pathway	13

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
ErbB3Pathway	Neuroregulin receptor degredation protein-1 Controls ErbB3 receptor recycling	2
agrPathway	Agrin in Postsynaptic Differentiation	8

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NRG1	LIMK1	NO	in vitro;yeast 2-hybrid	9685409
NRG1	EGF	NO	in vitro	7730382
NRG1	ERBB3	NO	in vitro	7592681 , 11555649 , 9565587 , 8702572
NRG1	ADAM19	NO	in vitro	11116142
NRG1	IKZF4	NO	in vitro;in vivo	15494726

Related other genetic factors

Gene related SNPs (count: 565)

Literature-origin SNPs (count: 87)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs16879552	chr8:32553698 - 32553698(1)	intron_variant	1(0/1/0)
rs17665441	chr8:32597509 - 32597509(1)	intron_variant	1(0/1/0)
rs4733140	chr8:32937937 - 32937937(1)		1(0/1/0)
rs9656744	chr8:32858965 - 32858965(1)		1(0/1/0)
rs7825175	chr8:32558756 - 32558756(1)	intron_variant	1(0/1/0)
rs10091429	chr8:32347489 - 32347489(1)	intron_variant	1(0/1/0)
rs16879922	chr8:32753703 - 32753703(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs967205	chr8:31930729 - 31930729(1)	intron_variant	1(0/1/0)
rs12541855	chr8:32670390 - 32670390(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs6994992	chr8:31638065 - 31638065(1)	upstream_gene_variant	1(0/1/0)
rs6982890	chr8:32757580 - 32757580(1)	downstream_gene_variant; intron_variant	1(0/1/0)
rs1481743	chr8:32163516 - 32163516(1)	intron_variant	1(0/1/0)
rs3924999	chr8:32595840 - 32595840(1)	missense_variant	2(0/2/0)
rs4733132	chr8:32568225 - 32568225(1)	intron_variant	1(0/1/0)
rs2466044	chr8:32644107 - 32644107(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2976515	chr8:32681275 - 32681275(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs6468121	chr8:32643290 - 32643290(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs1503491	chr8:31784590 - 31784590(1)	intron_variant	2(0/2/0)
rs16878388	chr8:31867426 - 31867426(1)	intron_variant	1(0/1/0)
rs7829383	chr8:32683142 - 32683142(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs11989919	chr8:32645107 - 32645107(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs10954862	chr8:32588592 - 32588592(1)	intron_variant	1(0/1/0)
rs2439281	chr8:32608036 - 32608036(1)	intron_variant	2(1/1/0)
rs6988339	chr8:32688398 - 32688398(1)	intron_variant; non_coding_transcript_variant	3(2/1/0)
rs2919391	chr8:32667522 - 32667522(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2466066	chr8:32580898 - 32580898(1)	intron_variant	1(0/1/0)
rs2466046	chr8:32659643 - 32659643(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs327329	chr8:31995982 - 31995982(1)	intron_variant	2(0/2/0)
rs35753505	chr8:31616625 - 31616625(1)		1(1/0/0)
rs7822564	chr8:32275366 - 32275366(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs2466089	chr8:32669159 - 32669159(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs10096770	chr8:32467704 - 32467704(1)	intron_variant	1(0/1/0)
rs1545961	chr8:32315840 - 32315840(1)	intron_variant	1(0/1/0)
rs2439273	chr8:32632792 - 32632792(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs10503932	chr8:32842905 - 32842905(1)		1(0/1/0)
rs3757933	chr8:32747325 - 32747325(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2439305	chr8:32571946 - 32571946(1)	intron_variant	1(0/1/0)
rs1579033	chr8:32440664 - 32440664(1)	intron_variant; upstream_gene_variant	1(1/0/0)
rs2976521	chr8:32651633 - 32651633(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs13260545	chr8:32560082 - 32560082(1)	intron_variant	1(0/1/0)
rs6468119	chr8:32544043 - 32544043(1)	intron_variant; upstream_gene_variant	1(1/0/0)
rs6468099	chr8:32369525 - 32369525(1)	intron_variant	1(0/1/0)
rs6986716	chr8:32390223 - 32390223(1)	intron_variant	1(0/1/0)
rs10095694	chr8:32642221 - 32642221(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs12547858	chr8:32629535 - 32629535(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs3808368	chr8:32645557 - 32645557(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4512342	chr8:32750356 - 32750356(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2129533	chr8:32304036 - 32304036(1)	intron_variant	1(1/0/0)
rs1481747	chr8:32207846 - 32207846(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs10954811	chr8:31728937 - 31728937(1)	intron_variant	1(0/1/0)
rs2919375	chr8:32719327 - 32719327(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs3757930	chr8:32731600 - 32731600(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	2(0/2/0)
rs9886497	chr8:32401480 - 32401480(1)	intron_variant	1(0/1/0)
rs1481762	chr8:32133711 - 32133711(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs10954842	chr8:32415681 - 32415681(1)	intron_variant	1(0/1/0)
rs7014762	chr8:31638152 - 31638152(1)	upstream_gene_variant	1(1/0/0)
rs12056925	chr8:32629374 - 32629374(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7835765	chr8:32692327 - 32692327(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs1948098	chr8:32327416 - 32327416(1)	intron_variant	1(0/1/0)
rs2919376	chr8:32716480 - 32716480(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs726908	chr8:32201112 - 32201112(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2439300	chr8:32575586 - 32575586(1)	intron_variant	1(0/1/0)
rs7007662	chr8:32095229 - 32095229(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs10113797	chr8:31652821 - 31652821(1)	intron_variant	1(0/1/0)
rs7015249	chr8:32227576 - 32227576(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs13259346	chr8:32653487 - 32653487(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4623364	chr8:31617757 - 31617757(1)		1(0/1/0)
rs7822917	chr8:32333365 - 32333365(1)	intron_variant	1(1/0/0)
rs113317778	chr8:31640156 - 31640156(1)	intron_variant; missense_variant; upstream_gene_variant	1(1/0/0)
rs1487141	chr8:32282136 - 32282136(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs553950	chr8:31933846 - 31933846(1)	intron_variant	2(2/0/0)
rs2439322	chr8:32662953 - 32662953(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs16879809	chr8:32715355 - 32715355(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2347501	chr8:32436635 - 32436635(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs7825588	chr8:32646882 - 32646882(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4298458	chr8:31627354 - 31627354(1)		1(0/1/0)
rs2466067	chr8:32580476 - 32580476(1)	intron_variant	1(0/1/0)
rs10093464	chr8:32493619 - 32493619(1)	intron_variant	1(0/1/0)
rs10103750	chr8:32739480 - 32739480(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4513929	chr8:31611963 - 31611963(1)		1(0/1/0)
rs2439286	chr8:32598664 - 32598664(1)	intron_variant	1(0/1/0)
rs16879576	chr8:32583717 - 32583717(1)	intron_variant	1(0/1/0)
rs2466096	chr8:32573214 - 32573214(1)	intron_variant	1(0/1/0)
rs901561	chr8:32285946 - 32285946(1)	intron_variant; non_coding_transcript_variant	2(1/1/0)
rs7005606	chr8:32543983 - 32543983(1)	intron_variant; upstream_gene_variant	2(2/0/0)
rs2919390	chr8:32669436 - 32669436(1)	intron_variant; non_coding_transcript_variant	3(2/1/0)
rs2466084	chr8:32678061 - 32678061(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 478)

rs_ID	Location	Functional Annotation
rs4624987	chr8:32539186 - 32539186(1)	intron_variant
rs16879557	chr8:32558300 - 32558300(1)	intron_variant
rs3884552	chr8:32542339 - 32542339(1)	intron_variant
rs7830563	chr8:32526430 - 32526430(1)	intron_variant
rs10113578	chr8:32526611 - 32526611(1)	intron_variant
rs10088313	chr8:32532544 - 32532544(1)	intron_variant
rs10954863	chr8:32598993 - 32598993(1)	intron_variant
rs6468090	chr8:32218533 - 32218533(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10107065	chr8:32533041 - 32533041(1)	intron_variant
rs11780004	chr8:32601460 - 32601460(1)	intron_variant; upstream_gene_variant
rs2200047	chr8:32218964 - 32218964(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10113593	chr8:32533841 - 32533841(1)	intron_variant
rs10954864	chr8:32603979 - 32603979(1)	intron_variant; upstream_gene_variant
rs10094655	chr8:32536630 - 32536630(1)	intron_variant
rs2035633	chr8:32212289 - 32212289(1)	intron_variant; non_coding_transcript_variant
rs1487144	chr8:32209870 - 32209870(1)	intron_variant; non_coding_transcript_variant
rs3843547	chr8:32215023 - 32215023(1)	intron_variant; non_coding_transcript_variant
rs3847130	chr8:32213792 - 32213792(1)	intron_variant; non_coding_transcript_variant
rs4733115	chr8:32190116 - 32190116(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4733114	chr8:32190025 - 32190025(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1481748	chr8:32207483 - 32207483(1)	intron_variant; non_coding_transcript_variant
rs969748	chr8:32205554 - 32205554(1)	intron_variant; non_coding_transcript_variant
rs1481739	chr8:32170325 - 32170325(1)	intron_variant; upstream_gene_variant
rs10954831	chr8:32168436 - 32168436(1)	intron_variant; upstream_gene_variant
rs4733306	chr8:32187592 - 32187592(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs11777991	chr8:32182046 - 32182046(1)	intron_variant; non_coding_transcript_variant
rs1481744	chr8:32163474 - 32163474(1)	intron_variant
rs7833021	chr8:32159178 - 32159178(1)	intron_variant
rs1351509	chr8:32167003 - 32167003(1)	intron_variant; upstream_gene_variant
rs1481742	chr8:32163670 - 32163670(1)	intron_variant
rs6999862	chr8:32336981 - 32336981(1)	intron_variant
rs5010057	chr8:32337718 - 32337718(1)	intron_variant
rs9987226	chr8:32337314 - 32337314(1)	intron_variant
rs10086332	chr8:32338347 - 32338347(1)	intron_variant
rs1386438	chr8:32338027 - 32338027(1)	intron_variant
rs1386439	chr8:32339337 - 32339337(1)	intron_variant
rs1487156	chr8:32339221 - 32339221(1)	intron_variant
rs7016269	chr8:32340134 - 32340134(1)	intron_variant
rs6991248	chr8:32340082 - 32340082(1)	intron_variant
rs970011	chr8:32340539 - 32340539(1)	intron_variant
rs3735782	chr8:32767339 - 32767339(1)	3_prime_UTR_variant; downstream_gene_variant
rs6991876	chr8:32340418 - 32340418(1)	intron_variant
rs7005288	chr8:32762949 - 32762949(1)	downstream_gene_variant; intron_variant
rs7815985	chr8:32341706 - 32341706(1)	intron_variant
rs7841457	chr8:32341922 - 32341922(1)	intron_variant
rs7841599	chr8:32342056 - 32342056(1)	intron_variant
rs12545122	chr8:32342227 - 32342227(1)	intron_variant
rs970997	chr8:32343038 - 32343038(1)	intron_variant
rs970998	chr8:32343568 - 32343568(1)	intron_variant
rs10503910	chr8:32344232 - 32344232(1)	intron_variant
rs7843923	chr8:32345546 - 32345546(1)	intron_variant
rs9297189	chr8:32348858 - 32348858(1)	intron_variant
rs10503911	chr8:32348882 - 32348882(1)	intron_variant
rs10503912	chr8:32348941 - 32348941(1)	intron_variant
rs12549972	chr8:32349396 - 32349396(1)	intron_variant
rs12676641	chr8:32352515 - 32352515(1)	intron_variant
rs7009436	chr8:32353936 - 32353936(1)	intron_variant
rs10503926	chr8:32683698 - 32683698(1)	intron_variant; non_coding_transcript_variant
rs7823899	chr8:32685523 - 32685523(1)	intron_variant; non_coding_transcript_variant
rs10503927	chr8:32685712 - 32685712(1)	intron_variant; non_coding_transcript_variant
rs4733360	chr8:32570685 - 32570685(1)	intron_variant
rs11787271	chr8:32568428 - 32568428(1)	intron_variant
rs17721043	chr8:32579357 - 32579357(1)	intron_variant
rs17720837	chr8:32575648 - 32575648(1)	intron_variant
rs11777396	chr8:32559716 - 32559716(1)	intron_variant
rs6989777	chr8:32558164 - 32558164(1)	intron_variant
rs4316112	chr8:32562829 - 32562829(1)	intron_variant
rs11776203	chr8:32561601 - 32561601(1)	intron_variant
rs6992642	chr8:32766869 - 32766869(1)	3_prime_UTR_variant; downstream_gene_variant
rs3735781	chr8:32767310 - 32767310(1)	3_prime_UTR_variant; downstream_gene_variant
rs16878272	chr8:31778318 - 31778318(1)	intron_variant
rs9642723	chr8:31779230 - 31779230(1)	intron_variant
rs4733272	chr8:31755300 - 31755300(1)	intron_variant
rs2345989	chr8:31771162 - 31771162(1)	intron_variant
rs2062817	chr8:31804914 - 31804914(1)	intron_variant
rs937669	chr8:31829420 - 31829420(1)	intron_variant
rs2881272	chr8:31788953 - 31788953(1)	intron_variant
rs2062818	chr8:31803838 - 31803838(1)	intron_variant
rs1827537	chr8:31838477 - 31838477(1)	intron_variant
rs2466050	chr8:32655720 - 32655720(1)	intron_variant; non_coding_transcript_variant
rs2439327	chr8:32654790 - 32654790(1)	intron_variant; non_coding_transcript_variant
rs2439290	chr8:32590511 - 32590511(1)	intron_variant
rs17665212	chr8:32591024 - 32591024(1)	intron_variant
rs2466094	chr8:32591213 - 32591213(1)	intron_variant
rs10954860	chr8:32584928 - 32584928(1)	intron_variant
rs4521724	chr8:32586476 - 32586476(1)	intron_variant
rs6999843	chr8:32589759 - 32589759(1)	intron_variant
rs2439291	chr8:32590498 - 32590498(1)	intron_variant
rs2954042	chr8:32660839 - 32660839(1)	intron_variant; non_coding_transcript_variant
rs4535704	chr8:32617104 - 32617104(1)	intron_variant; non_coding_transcript_variant
rs2919394	chr8:32664608 - 32664608(1)	intron_variant; non_coding_transcript_variant
rs2954041	chr8:32665107 - 32665107(1)	intron_variant; non_coding_transcript_variant
rs4531002	chr8:32644468 - 32644468(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10098373	chr8:32635066 - 32635066(1)	intron_variant; non_coding_transcript_variant
rs16878253	chr8:31755170 - 31755170(1)	intron_variant
rs2345991	chr8:31751279 - 31751279(1)	intron_variant
rs10954857	chr8:32584626 - 32584626(1)	intron_variant
rs7826436	chr8:32582416 - 32582416(1)	intron_variant
rs17721098	chr8:32581692 - 32581692(1)	intron_variant
rs4302803	chr8:32581205 - 32581205(1)	intron_variant
rs7826814	chr8:32580411 - 32580411(1)	intron_variant
rs2439279	chr8:32608891 - 32608891(1)	intron_variant
rs2919370	chr8:32619298 - 32619298(1)	intron_variant; non_coding_transcript_variant
rs2439321	chr8:32663803 - 32663803(1)	intron_variant; non_coding_transcript_variant
rs4445183	chr8:32704925 - 32704925(1)	intron_variant; non_coding_transcript_variant
rs2439292	chr8:32589364 - 32589364(1)	intron_variant
rs1947734	chr8:32080387 - 32080387(1)	intron_variant; non_coding_transcript_variant
rs1381871	chr8:32077786 - 32077786(1)	intron_variant; non_coding_transcript_variant
rs16878780	chr8:32086310 - 32086310(1)	intron_variant; non_coding_transcript_variant
rs7818326	chr8:32085856 - 32085856(1)	intron_variant; non_coding_transcript_variant
rs9297185	chr8:32086512 - 32086512(1)	intron_variant; non_coding_transcript_variant
rs2919392	chr8:32666932 - 32666932(1)	intron_variant; non_coding_transcript_variant
rs2466045	chr8:32661240 - 32661240(1)	intron_variant; non_coding_transcript_variant
rs2976514	chr8:32680520 - 32680520(1)	intron_variant; non_coding_transcript_variant
rs12056349	chr8:32461957 - 32461957(1)	intron_variant
rs11997114	chr8:32462442 - 32462442(1)	intron_variant
rs11506112	chr8:32498288 - 32498288(1)	intron_variant
rs7844425	chr8:32518101 - 32518101(1)	intron_variant
rs7835626	chr8:31989556 - 31989556(1)	intron_variant
rs10098640	chr8:32452382 - 32452382(1)	intron_variant
rs6983358	chr8:31997356 - 31997356(1)	intron_variant
rs13439816	chr8:32454969 - 32454969(1)	intron_variant
rs11782798	chr8:32004662 - 32004662(1)	intron_variant
rs6981184	chr8:32456389 - 32456389(1)	intron_variant
rs4147431	chr8:32004827 - 32004827(1)	intron_variant
rs17716295	chr8:32460401 - 32460401(1)	intron_variant
rs327338	chr8:32004958 - 32004958(1)	intron_variant
rs327341	chr8:32006648 - 32006648(1)	intron_variant
rs2929484	chr8:32008563 - 32008563(1)	intron_variant
rs10954818	chr8:32018623 - 32018623(1)	intron_variant
rs1947735	chr8:32021237 - 32021237(1)	intron_variant; upstream_gene_variant
rs7000397	chr8:32526346 - 32526346(1)	intron_variant
rs16878670	chr8:32023748 - 32023748(1)	intron_variant; upstream_gene_variant
rs2881470	chr8:32047918 - 32047918(1)	intron_variant; non_coding_transcript_variant
rs1462900	chr8:32070122 - 32070122(1)	intron_variant; non_coding_transcript_variant
rs2439319	chr8:32668806 - 32668806(1)	intron_variant; non_coding_transcript_variant
rs13439435	chr8:32447894 - 32447894(1)	intron_variant
rs6468103	chr8:32443808 - 32443808(1)	downstream_gene_variant; intron_variant
rs6981660	chr8:32440960 - 32440960(1)	intron_variant; non_coding_transcript_variant
rs9297195	chr8:32681923 - 32681923(1)	intron_variant; non_coding_transcript_variant
rs4565419	chr8:32682518 - 32682518(1)	intron_variant; non_coding_transcript_variant
rs764059	chr8:32673773 - 32673773(1)	intron_variant; non_coding_transcript_variant
rs10099273	chr8:32680390 - 32680390(1)	intron_variant; non_coding_transcript_variant
rs16879735	chr8:32672738 - 32672738(1)	intron_variant; non_coding_transcript_variant
rs2439315	chr8:32673292 - 32673292(1)	intron_variant; non_coding_transcript_variant
rs723811	chr8:32669762 - 32669762(1)	intron_variant; non_coding_transcript_variant
rs2439317	chr8:32671393 - 32671393(1)	intron_variant; non_coding_transcript_variant
rs7014535	chr8:32712285 - 32712285(1)	intron_variant; non_coding_transcript_variant
rs16879801	chr8:32712975 - 32712975(1)	intron_variant; non_coding_transcript_variant
rs13439182	chr8:32709222 - 32709222(1)	intron_variant; non_coding_transcript_variant
rs13439185	chr8:32709356 - 32709356(1)	intron_variant; non_coding_transcript_variant
rs10103952	chr8:32698752 - 32698752(1)	intron_variant; non_coding_transcript_variant
rs10095607	chr8:32702369 - 32702369(1)	intron_variant; non_coding_transcript_variant
rs10503925	chr8:32683541 - 32683541(1)	intron_variant; non_coding_transcript_variant
rs10099703	chr8:32695647 - 32695647(1)	intron_variant; non_coding_transcript_variant
rs1872800	chr8:32250979 - 32250979(1)	intron_variant; non_coding_transcript_variant
rs4733312	chr8:32253401 - 32253401(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2881544	chr8:32254893 - 32254893(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10096233	chr8:32257740 - 32257740(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs11786556	chr8:32248971 - 32248971(1)	intron_variant; non_coding_transcript_variant
rs11784296	chr8:32249307 - 32249307(1)	intron_variant; non_coding_transcript_variant
rs978234	chr8:32249922 - 32249922(1)	intron_variant; non_coding_transcript_variant
rs978232	chr8:32250155 - 32250155(1)	intron_variant; non_coding_transcript_variant
rs7841840	chr8:32241909 - 32241909(1)	intron_variant; non_coding_transcript_variant
rs2347066	chr8:32245886 - 32245886(1)	intron_variant; non_coding_transcript_variant
rs1351510	chr8:32246542 - 32246542(1)	intron_variant; non_coding_transcript_variant
rs989465	chr8:32247818 - 32247818(1)	intron_variant; non_coding_transcript_variant
rs1481730	chr8:32240468 - 32240468(1)	intron_variant; non_coding_transcript_variant
rs1383961	chr8:32240539 - 32240539(1)	intron_variant; non_coding_transcript_variant
rs1481732	chr8:32240851 - 32240851(1)	intron_variant; non_coding_transcript_variant
rs1481733	chr8:32241014 - 32241014(1)	intron_variant; non_coding_transcript_variant
rs4291228	chr8:32236538 - 32236538(1)	intron_variant; non_coding_transcript_variant
rs721002	chr8:32235973 - 32235973(1)	intron_variant; non_coding_transcript_variant
rs1351508	chr8:32239622 - 32239622(1)	intron_variant; non_coding_transcript_variant
rs1383960	chr8:32237664 - 32237664(1)	intron_variant; non_coding_transcript_variant
rs1383959	chr8:32232799 - 32232799(1)	intron_variant; non_coding_transcript_variant
rs1383970	chr8:32229669 - 32229669(1)	intron_variant; non_coding_transcript_variant
rs1481729	chr8:32235593 - 32235593(1)	intron_variant; non_coding_transcript_variant
rs7812985	chr8:32233868 - 32233868(1)	intron_variant; non_coding_transcript_variant
rs1383966	chr8:32227176 - 32227176(1)	intron_variant; non_coding_transcript_variant
rs2466059	chr8:32615099 - 32615099(1)	intron_variant; non_coding_transcript_variant
rs7839084	chr8:32226630 - 32226630(1)	intron_variant; non_coding_transcript_variant
rs2466092	chr8:32607421 - 32607421(1)	intron_variant
rs1383967	chr8:32228082 - 32228082(1)	intron_variant; non_coding_transcript_variant
rs2466061	chr8:32619728 - 32619728(1)	intron_variant; non_coding_transcript_variant
rs4733310	chr8:32227990 - 32227990(1)	intron_variant; non_coding_transcript_variant
rs2439276	chr8:32619589 - 32619589(1)	intron_variant; non_coding_transcript_variant
rs1948097	chr8:32222739 - 32222739(1)	intron_variant; non_coding_transcript_variant
rs1383965	chr8:32221585 - 32221585(1)	intron_variant; non_coding_transcript_variant
rs7817549	chr8:32226549 - 32226549(1)	intron_variant; non_coding_transcript_variant
rs988031	chr8:32225889 - 32225889(1)	intron_variant; non_coding_transcript_variant
rs7835688	chr8:32553981 - 32553981(1)	intron_variant
rs11991474	chr8:32555792 - 32555792(1)	intron_variant
rs4541858	chr8:32552791 - 32552791(1)	intron_variant
rs12543882	chr8:32553175 - 32553175(1)	intron_variant
rs9642727	chr8:32556514 - 32556514(1)	intron_variant
rs2439302	chr8:32574851 - 32574851(1)	intron_variant
rs4733130	chr8:32549476 - 32549476(1)	intron_variant
rs6996585	chr8:32543285 - 32543285(1)	intron_variant; upstream_gene_variant
rs2976522	chr8:32652601 - 32652601(1)	intron_variant; non_coding_transcript_variant
rs2976530	chr8:32655180 - 32655180(1)	intron_variant; non_coding_transcript_variant
rs13266765	chr8:32771680 - 32771680(1)	downstream_gene_variant
rs2976518	chr8:32650017 - 32650017(1)	intron_variant; non_coding_transcript_variant
rs4733376	chr8:32756311 - 32756311(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2466052	chr8:32654121 - 32654121(1)	intron_variant; non_coding_transcript_variant
rs2466051	chr8:32655304 - 32655304(1)	intron_variant; non_coding_transcript_variant
rs11985501	chr8:32392169 - 32392169(1)	intron_variant
rs10102991	chr8:32395212 - 32395212(1)	intron_variant
rs4733119	chr8:32401569 - 32401569(1)	intron_variant
rs28392732	chr8:32409719 - 32409719(1)	intron_variant
rs7012689	chr8:32643507 - 32643507(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10103976	chr8:32624155 - 32624155(1)	intron_variant; non_coding_transcript_variant
rs10103255	chr8:32630833 - 32630833(1)	intron_variant; non_coding_transcript_variant
rs4579490	chr8:32630675 - 32630675(1)	intron_variant; non_coding_transcript_variant
rs11776643	chr8:31706814 - 31706814(1)	intron_variant
rs7006674	chr8:31718368 - 31718368(1)	intron_variant
rs6468060	chr8:31699585 - 31699585(1)	intron_variant
rs11776163	chr8:31701543 - 31701543(1)	intron_variant
rs11784088	chr8:31691740 - 31691740(1)	intron_variant
rs11780822	chr8:32422678 - 32422678(1)	intron_variant
rs10954810	chr8:31698227 - 31698227(1)	intron_variant
rs11775675	chr8:32404989 - 32404989(1)	intron_variant
rs17635931	chr8:32406795 - 32406795(1)	intron_variant
rs17713685	chr8:32404066 - 32404066(1)	intron_variant
rs9297190	chr8:32401410 - 32401410(1)	intron_variant
rs2976527	chr8:32719934 - 32719934(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs11779244	chr8:32399007 - 32399007(1)	intron_variant
rs2919381	chr8:32706406 - 32706406(1)	intron_variant; non_coding_transcript_variant
rs12114401	chr8:32398345 - 32398345(1)	intron_variant
rs10100015	chr8:32397009 - 32397009(1)	intron_variant
rs6993762	chr8:32395730 - 32395730(1)	intron_variant
rs10102900	chr8:32395163 - 32395163(1)	intron_variant
rs10101959	chr8:32395018 - 32395018(1)	intron_variant
rs11784074	chr8:32394554 - 32394554(1)	intron_variant
rs13270577	chr8:32393167 - 32393167(1)	intron_variant
rs13270158	chr8:32392484 - 32392484(1)	intron_variant
rs11992840	chr8:32392002 - 32392002(1)	intron_variant
rs13267174	chr8:32391524 - 32391524(1)	intron_variant
rs11989773	chr8:32390820 - 32390820(1)	intron_variant
rs7000545	chr8:32389611 - 32389611(1)	intron_variant
rs17635097	chr8:32388180 - 32388180(1)	intron_variant
rs7820929	chr8:31785294 - 31785294(1)	intron_variant
rs13276181	chr8:32384982 - 32384982(1)	intron_variant
rs7817052	chr8:31786844 - 31786844(1)	intron_variant
rs7844353	chr8:32385653 - 32385653(1)	intron_variant
rs7007436	chr8:32744874 - 32744874(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1354336	chr8:31787355 - 31787355(1)	intron_variant
rs17712955	chr8:32387036 - 32387036(1)	intron_variant
rs1546326	chr8:31787666 - 31787666(1)	intron_variant
rs2881651	chr8:32388041 - 32388041(1)	intron_variant
rs10954813	chr8:31769666 - 31769666(1)	intron_variant
rs2345990	chr8:31771318 - 31771318(1)	intron_variant
rs1503490	chr8:31780813 - 31780813(1)	intron_variant
rs4733098	chr8:31782379 - 31782379(1)	intron_variant
rs1393953	chr8:31797447 - 31797447(1)	intron_variant
rs7825505	chr8:31801170 - 31801170(1)	intron_variant
rs10087434	chr8:32125551 - 32125551(1)	intron_variant; non_coding_transcript_variant
rs11775517	chr8:31806407 - 31806407(1)	intron_variant
rs7815480	chr8:32115616 - 32115616(1)	intron_variant; non_coding_transcript_variant
rs7836838	chr8:31806649 - 31806649(1)	intron_variant
rs10104297	chr8:31787809 - 31787809(1)	intron_variant
rs4733275	chr8:31791553 - 31791553(1)	intron_variant
rs7820923	chr8:31793153 - 31793153(1)	intron_variant
rs7014729	chr8:31795668 - 31795668(1)	intron_variant
rs11774988	chr8:31740626 - 31740626(1)	intron_variant
rs11775125	chr8:31737403 - 31737403(1)	intron_variant
rs6468065	chr8:31746365 - 31746365(1)	intron_variant
rs7002293	chr8:31744908 - 31744908(1)	intron_variant
rs7016384	chr8:31723275 - 31723275(1)	intron_variant
rs6993559	chr8:31718499 - 31718499(1)	intron_variant
rs7003184	chr8:31736626 - 31736626(1)	intron_variant
rs4521723	chr8:31734489 - 31734489(1)	intron_variant
rs6468066	chr8:31758928 - 31758928(1)	intron_variant
rs10104764	chr8:31758039 - 31758039(1)	intron_variant
rs13249835	chr8:31762626 - 31762626(1)	intron_variant
rs13279016	chr8:31761735 - 31761735(1)	intron_variant
rs7821017	chr8:31749993 - 31749993(1)	intron_variant
rs11779083	chr8:31748862 - 31748862(1)	intron_variant
rs11993157	chr8:31755040 - 31755040(1)	intron_variant
rs11781163	chr8:31751316 - 31751316(1)	intron_variant
rs11780219	chr8:32170300 - 32170300(1)	intron_variant; upstream_gene_variant
rs2881472	chr8:32169636 - 32169636(1)	intron_variant; upstream_gene_variant
rs10093107	chr8:32168933 - 32168933(1)	intron_variant; upstream_gene_variant
rs4733319	chr8:32378365 - 32378365(1)	intron_variant
rs13249590	chr8:32164049 - 32164049(1)	intron_variant
rs10097263	chr8:32214227 - 32214227(1)	intron_variant; non_coding_transcript_variant
rs720684	chr8:32200295 - 32200295(1)	intron_variant; non_coding_transcript_variant
rs10093657	chr8:32192211 - 32192211(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs12550195	chr8:32184365 - 32184365(1)	intron_variant; non_coding_transcript_variant
rs12675781	chr8:32400310 - 32400310(1)	intron_variant
rs12676409	chr8:32389257 - 32389257(1)	intron_variant
rs2347507	chr8:32377509 - 32377509(1)	intron_variant
rs12547176	chr8:32375365 - 32375365(1)	intron_variant
rs4733331	chr8:32420424 - 32420424(1)	intron_variant
rs13248971	chr8:32419502 - 32419502(1)	intron_variant
rs12545685	chr8:32406498 - 32406498(1)	intron_variant
rs6987310	chr8:31818114 - 31818114(1)	intron_variant
rs7813321	chr8:31810801 - 31810801(1)	intron_variant
rs7014206	chr8:31809779 - 31809779(1)	intron_variant
rs13282705	chr8:31808097 - 31808097(1)	intron_variant
rs1393952	chr8:31827963 - 31827963(1)	intron_variant
rs10503891	chr8:31823167 - 31823167(1)	intron_variant
rs2134619	chr8:31821430 - 31821430(1)	intron_variant
rs13251192	chr8:31820829 - 31820829(1)	intron_variant
rs1503497	chr8:31847587 - 31847587(1)	intron_variant
rs701955	chr8:31844159 - 31844159(1)	intron_variant
rs1995467	chr8:31839005 - 31839005(1)	intron_variant
rs1503487	chr8:31833072 - 31833072(1)	intron_variant
rs1503488	chr8:31833494 - 31833494(1)	intron_variant
rs6468067	chr8:31771984 - 31771984(1)	intron_variant
rs2919374	chr8:32721183 - 32721183(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs17631978	chr8:32324432 - 32324432(1)	intron_variant
rs2975504	chr8:32721481 - 32721481(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7013878	chr8:32336768 - 32336768(1)	intron_variant
rs9642729	chr8:32613055 - 32613055(1)	intron_variant; upstream_gene_variant
rs2919388	chr8:32671425 - 32671425(1)	intron_variant; non_coding_transcript_variant
rs7001724	chr8:32354910 - 32354910(1)	intron_variant
rs41353848	chr8:32617809 - 32617809(1)	intron_variant; non_coding_transcript_variant
rs2954045	chr8:32672451 - 32672451(1)	intron_variant; non_coding_transcript_variant
rs11783991	chr8:32355404 - 32355404(1)	intron_variant
rs4733365	chr8:32623131 - 32623131(1)	intron_variant; non_coding_transcript_variant
rs1986774	chr8:32673966 - 32673966(1)	intron_variant; non_coding_transcript_variant
rs3757928	chr8:32724733 - 32724733(1)	intron_variant; non_coding_transcript_variant
rs2919385	chr8:32700313 - 32700313(1)	intron_variant; non_coding_transcript_variant
rs2919384	chr8:32702425 - 32702425(1)	intron_variant; non_coding_transcript_variant
rs2919382	chr8:32703247 - 32703247(1)	intron_variant; non_coding_transcript_variant
rs2919379	chr8:32710447 - 32710447(1)	intron_variant; non_coding_transcript_variant
rs2919378	chr8:32712151 - 32712151(1)	intron_variant; non_coding_transcript_variant
rs2976525	chr8:32715465 - 32715465(1)	intron_variant; non_coding_transcript_variant
rs2919377	chr8:32716223 - 32716223(1)	intron_variant; non_coding_transcript_variant
rs2976526	chr8:32717133 - 32717133(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2976519	chr8:32683389 - 32683389(1)	intron_variant; non_coding_transcript_variant
rs2919387	chr8:32697680 - 32697680(1)	intron_variant; non_coding_transcript_variant
rs2975498	chr8:32694671 - 32694671(1)	intron_variant; non_coding_transcript_variant
rs1383964	chr8:32146658 - 32146658(1)	intron_variant
rs1487151	chr8:32360038 - 32360038(1)	intron_variant
rs1481761	chr8:32150737 - 32150737(1)	intron_variant
rs1623372	chr8:32358086 - 32358086(1)	intron_variant
rs2068226	chr8:32152990 - 32152990(1)	intron_variant
rs4733303	chr8:32161772 - 32161772(1)	intron_variant
rs4298457	chr8:32585856 - 32585856(1)	intron_variant
rs2466062	chr8:32585572 - 32585572(1)	intron_variant
rs17721372	chr8:32586748 - 32586748(1)	intron_variant
rs10503921	chr8:32583817 - 32583817(1)	intron_variant
rs10954858	chr8:32584827 - 32584827(1)	intron_variant
rs10954859	chr8:32584838 - 32584838(1)	intron_variant
rs17721282	chr8:32585507 - 32585507(1)	intron_variant
rs6993043	chr8:32107672 - 32107672(1)	intron_variant; non_coding_transcript_variant
rs10954827	chr8:32095194 - 32095194(1)	intron_variant; non_coding_transcript_variant
rs16878794	chr8:32094528 - 32094528(1)	intron_variant; non_coding_transcript_variant
rs11776959	chr8:32091348 - 32091348(1)	intron_variant; non_coding_transcript_variant
rs13277456	chr8:31647312 - 31647312(1)	intron_variant
rs4733269	chr8:31677449 - 31677449(1)	intron_variant
rs7009043	chr8:31667037 - 31667037(1)	intron_variant
rs11783236	chr8:31658838 - 31658838(1)	intron_variant
rs6987996	chr8:31649255 - 31649255(1)	intron_variant
rs13282195	chr8:32650520 - 32650520(1)	intron_variant; non_coding_transcript_variant
rs9649887	chr8:31948042 - 31948042(1)	intron_variant
rs327363	chr8:31947537 - 31947537(1)	intron_variant
rs327360	chr8:31946686 - 31946686(1)	intron_variant
rs327359	chr8:31945942 - 31945942(1)	intron_variant
rs10503904	chr8:32307171 - 32307171(1)	intron_variant
rs733230	chr8:31945066 - 31945066(1)	intron_variant
rs327357	chr8:31944083 - 31944083(1)	intron_variant
rs17630934	chr8:32294788 - 32294788(1)	intron_variant
rs327356	chr8:31943070 - 31943070(1)	intron_variant
rs6468095	chr8:32306960 - 32306960(1)	intron_variant
rs327354	chr8:31942543 - 31942543(1)	intron_variant
rs432063	chr8:31951636 - 31951636(1)	intron_variant
rs437845	chr8:31951337 - 31951337(1)	intron_variant
rs367830	chr8:31951088 - 31951088(1)	intron_variant
rs1159199	chr8:31950603 - 31950603(1)	intron_variant
rs385396	chr8:31950578 - 31950578(1)	intron_variant
rs402169	chr8:31949147 - 31949147(1)	intron_variant
rs383632	chr8:31948532 - 31948532(1)	intron_variant
rs400794	chr8:31948056 - 31948056(1)	intron_variant
rs1676459	chr8:31953462 - 31953462(1)	intron_variant
rs425094	chr8:31952954 - 31952954(1)	intron_variant
rs449951	chr8:31953132 - 31953132(1)	intron_variant
rs414945	chr8:31952670 - 31952670(1)	intron_variant
rs406422	chr8:31952906 - 31952906(1)	intron_variant
rs371771	chr8:31952029 - 31952029(1)	intron_variant
rs418531	chr8:31952400 - 31952400(1)	intron_variant
rs7836407	chr8:32290224 - 32290224(1)	downstream_gene_variant; intron_variant
rs1872798	chr8:32289067 - 32289067(1)	downstream_gene_variant; intron_variant
rs16879111	chr8:32283428 - 32283428(1)	intron_variant; non_coding_transcript_variant
rs1487142	chr8:32282217 - 32282217(1)	intron_variant; non_coding_transcript_variant
rs4733117	chr8:32280094 - 32280094(1)	intron_variant; non_coding_transcript_variant
rs1119807	chr8:31923712 - 31923712(1)	intron_variant
rs12546380	chr8:32678402 - 32678402(1)	intron_variant; non_coding_transcript_variant
rs6468068	chr8:31925190 - 31925190(1)	intron_variant
rs1699125	chr8:31924389 - 31924389(1)	intron_variant
rs776392	chr8:31925495 - 31925495(1)	intron_variant
rs800501	chr8:31925423 - 31925423(1)	intron_variant
rs776390	chr8:31926764 - 31926764(1)	intron_variant
rs811842	chr8:31926138 - 31926138(1)	intron_variant
rs776389	chr8:31926824 - 31926824(1)	intron_variant
rs1699127	chr8:31929196 - 31929196(1)	intron_variant
rs1680164	chr8:31929903 - 31929903(1)	intron_variant
rs967206	chr8:31930818 - 31930818(1)	intron_variant
rs435904	chr8:31931585 - 31931585(1)	intron_variant
rs369828	chr8:31931908 - 31931908(1)	intron_variant
rs418362	chr8:31931935 - 31931935(1)	intron_variant
rs367925	chr8:31932161 - 31932161(1)	intron_variant
rs428051	chr8:31932219 - 31932219(1)	intron_variant
rs398021	chr8:31932874 - 31932874(1)	intron_variant
rs448423	chr8:31933885 - 31933885(1)	intron_variant
rs419874	chr8:31934105 - 31934105(1)	intron_variant
rs4373486	chr8:31934169 - 31934169(1)	intron_variant
rs327342	chr8:31935939 - 31935939(1)	intron_variant
rs1462872	chr8:31936593 - 31936593(1)	intron_variant
rs327347	chr8:31939183 - 31939183(1)	intron_variant
rs2919389	chr8:32731383 - 32731383(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7001942	chr8:32429716 - 32429716(1)	intron_variant
rs2347491	chr8:32481675 - 32481675(1)	intron_variant
rs2347493	chr8:32482120 - 32482120(1)	intron_variant
rs6984617	chr8:32482767 - 32482767(1)	intron_variant
rs6468112	chr8:32484814 - 32484814(1)	intron_variant
rs6468113	chr8:32484955 - 32484955(1)	intron_variant
rs4621766	chr8:32486279 - 32486279(1)	intron_variant
rs2881647	chr8:32487276 - 32487276(1)	intron_variant
rs7844698	chr8:32488177 - 32488177(1)	intron_variant
rs12707703	chr8:32447435 - 32447435(1)	downstream_gene_variant; intron_variant
rs10954849	chr8:32467352 - 32467352(1)	intron_variant
rs10113264	chr8:32467910 - 32467910(1)	intron_variant
rs6984060	chr8:32469029 - 32469029(1)	intron_variant
rs10092307	chr8:32475117 - 32475117(1)	intron_variant
rs1878919	chr8:32476249 - 32476249(1)	intron_variant
rs10110849	chr8:32476293 - 32476293(1)	intron_variant
rs6468108	chr8:32476637 - 32476637(1)	intron_variant
rs6996494	chr8:32502120 - 32502120(1)	intron_variant
rs6468116	chr8:32496854 - 32496854(1)	intron_variant
rs4489283	chr8:32542144 - 32542144(1)	intron_variant
rs6468118	chr8:32541772 - 32541772(1)	intron_variant
rs4422737	chr8:32542331 - 32542331(1)	intron_variant
rs10099043	chr8:32489338 - 32489338(1)	intron_variant
rs10097555	chr8:32488779 - 32488779(1)	intron_variant
rs4370489	chr8:32490933 - 32490933(1)	intron_variant
rs7001605	chr8:32489731 - 32489731(1)	intron_variant
rs7821497	chr8:32491358 - 32491358(1)	intron_variant
rs4278115	chr8:32491077 - 32491077(1)	intron_variant
rs6468114	chr8:32496225 - 32496225(1)	intron_variant
rs10503918	chr8:32492530 - 32492530(1)	intron_variant
rs10954866	chr8:32732115 - 32732115(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7812396	chr8:32730479 - 32730479(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3735776	chr8:32727916 - 32727916(1)	intron_variant; non_coding_transcript_variant
rs2466064	chr8:32583685 - 32583685(1)	intron_variant
rs3735775	chr8:32727905 - 32727905(1)	intron_variant; non_coding_transcript_variant
rs16879886	chr8:32727339 - 32727339(1)	intron_variant; non_coding_transcript_variant
rs4733373	chr8:32748065 - 32748065(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10087924	chr8:32735729 - 32735729(1)	intron_variant; non_coding_transcript_variant
rs10087939	chr8:32735775 - 32735775(1)	intron_variant; non_coding_transcript_variant
rs7840503	chr8:32737950 - 32737950(1)	intron_variant; non_coding_transcript_variant
rs10216730	chr8:32738554 - 32738554(1)	intron_variant; non_coding_transcript_variant
rs9297196	chr8:32739897 - 32739897(1)	intron_variant; non_coding_transcript_variant
rs10089599	chr8:32740703 - 32740703(1)	intron_variant; non_coding_transcript_variant
rs10105155	chr8:32742333 - 32742333(1)	intron_variant; non_coding_transcript_variant
rs4733372	chr8:32747870 - 32747870(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2439284	chr8:32604740 - 32604740(1)	intron_variant; upstream_gene_variant
rs4602844	chr8:32594380 - 32594380(1)	intron_variant
rs2439282	chr8:32605183 - 32605183(1)	intron_variant; upstream_gene_variant
rs4311627	chr8:32583277 - 32583277(1)	intron_variant
rs12680129	chr8:32585627 - 32585627(1)	intron_variant
rs10104033	chr8:32565762 - 32565762(1)	intron_variant
rs13253981	chr8:32568818 - 32568818(1)	intron_variant
rs10096055	chr8:32476570 - 32476570(1)	intron_variant
rs7826312	chr8:32542597 - 32542597(1)	intron_variant
rs4733362	chr8:32571450 - 32571450(1)	intron_variant
rs4272338	chr8:32580882 - 32580882(1)	intron_variant
rs4236710	chr8:32571241 - 32571241(1)	intron_variant
rs4733361	chr8:32571417 - 32571417(1)	intron_variant
rs4236707	chr8:32298269 - 32298269(1)	intron_variant
rs12707704	chr8:32447490 - 32447490(1)	downstream_gene_variant; intron_variant
rs7824399	chr8:32283999 - 32283999(1)	intron_variant; non_coding_transcript_variant
rs7015838	chr8:32472781 - 32472781(1)	intron_variant
rs7844597	chr8:32472935 - 32472935(1)	intron_variant
rs10103930	chr8:32448439 - 32448439(1)	intron_variant
rs10103022	chr8:32468114 - 32468114(1)	intron_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Sheng[2012]_18	chr8:31618950-32715614 (Affymetrix SNP 6.0 array reference genome)	1096664	8p21

Gene related other variants (count: 8)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
NRG1_SNP88NR221533	point mutation	1 (0/1/0)
NRG1_D8S1810	microsatellite	1 (1/0/0)
NRG1_478B14-848	microsatellite	2 (0/2/0)
NRG1_420M9-1395	microsatellite	2 (0/2/0)
NRG1_SNP8NRG241930	point mutation	3 (0/3/0)
NRG1_SNP8NRG243177	point mutation	3 (0/3/0)
NRG1_SNP8NRG221132	point mutation	1 (0/1/0)
NRG1_SNP8NRG221533	point mutation	2 (0/2/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
8p12	chr8:29000000-36700000	1 (0/1/0)
Chr 8	chr8:0-145138636	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 8)

Reference	Description	Result Category
19521112	A significant increase in homozygosity for the minor allele was found in patients with SZ (genotype distribution chi(2) = 7.32, p = 0.03) but not in BD (genotype distribution chi(2) = 0.52, p = 0.77).The findings suggest that homozygosity for rs725588 could be a risk genotype for SZ.	Positive
20435087	This study supports the involvement of NRG1 variants in the less well studied 3 region in conferring susceptibility to SCZ and BPD in the Scottish population.	Positive
25244971	No significant associations were observed with SZ.	Negative
19184335	Global haplotype analysis for the schizophrenia sample was significant.The core at risk haplotype was not significant.	Positive
21745728	In conclusion, the present findings do not support association of the NRG1 variants in the CVCR population with schizophrenia or bipolar disorder.	Negative
16940976	Our study identifies a new of NRG1 region involved in schizophrenia and bipolar disorder in the Scottish population.	Positive
16380905	This gene is not suggestive to SZ/SZA.	Negative
18466881	The initial global haplotype test yielded significant evidence for association (p=.01) with SZ/SA and BP1 (p= .004), although HAPICE was not overtransmitted. The marker showing strongest evidence for association in the deCODE studies, SNP8NRG221533, was associated with SZ/SA (p= .039) and with BP1 (p=.039), with BP1 showing association to the opposite allele as SZ/SA. The pattern of transmission at SNP8NRG221533 was significantly different in SZ/SA than in BP1 (p= .0004). Secondary analyses of markers and phenotypes provided no additional evidence for association to SZ/SA. However, a new marker, rs7014762, was associated with an a priori defined 'typical' bipolar phenotype characterized by excellent recovery between episodes and no mood incongruent features (p=.003)..	Positive

Overlap with SZ from candidate gene intersection analysis (count: 50)

Reference	ID in SZGene	Result Category
15545978	311	Positive
15007393	311	Positive
12874607	311	Positive
19521112	311	Positive
16219118	311	Negative
20061032	311	Negative
18286587	311	Negative
12145742	311	Positive
17408693	311	Negative
14729827	311	Positive
19937977	311	Positive
19439994	311	Negative
20435087	311	Positive
16638076	311	Negative
17033632	311	Positive
17598910	311	Positive
17893707	311	Negative
19367581	311	Positive
18571900	311	Negative
19184335	311	Positive
17300918	311	Negative
15303101	311	Positive
15276238	311	Positive
16326006	311	Positive
15248869	311	Positive
14699424	311	Negative
16483744	311	Negative
15538186	311	Negative
16730337	311	Positive
18704261	311	Negative
16526041	311	Positive
16940976	311	Positive
14966480	311	Positive
17503451	311	Trend
17631867	311	Negative
14647391	311	Positive
15197397	311	Negative
12808428	311	Positive
20978455	311	Negative
20102668	311	Negative
16380905	311	Negative
19573260	311	Negative
19626024	311	Positive
17901998	311	Positive
18466881	311	Positive
18198266	311	Negative
12478479	311	Positive
16287046	311	Positive
19652122	311	Positive
18282690	311	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 3)

Reference	Description	Category in MDD	Link in MK4MDD
20471034	We found that variations of mRNA levels for NRG1, SORT1 and TPH1 were interesting state-dependent biological markers of the disease.	Pos	NRG1
23273899	No association with mood disorders and clinical outcomes was observed	Neg	NRG1
19367584	We found no single marker or haplotype associations that withstood correction for multiple testing.	Neg	NRG1

View in gBrowse

Region: chr8:31639386..32767959 View in gBrowse