SNP Report

Basic Info

Name	rs3810971 dbSNP Ensembl
Location	chr22:50108237 - 50108237(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.246805
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant. Polyphen Annotation: probably damaging(ENST00000262794, ENST00000395858, ENST00000540615, ENST00000545383) SIFT Annotation: deleterious(ENST00000262794, ENST00000395858, ENST00000540615, ENST00000545383)
Consequence to Transcript	3_prime_UTR_variant(ENST00000395854, ENST00000419054); downstream_gene_variant(ENST00000475190); missense_variant(ENST00000262794, ENST00000395858, ENST00000540615, ENST00000545383); NMD_transcript_variant(ENST00000395854, ENST00000419054)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Severinsen, J. E., 2006 (b)	C/T		P-value = 0.5368 in BD, P-value = 0.9874 in BD and SZ P-value = 0.5368 in BD, P-value = 0.9874 in BD and SZ		Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
MOV10L1	Mov10 RISC complex RNA helicase like 1	22q13.33	1(0/1/0)

SNPs in LD with rs3810971 (count: 56) View in gBrowse (chr22:50081762..50148438 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 56)

rs_ID	Functional Annotation	r²[population]
rs9617095	intron_variant; NMD_transcript_variant	1.0[CEU]
rs2340603	intron_variant; NMD_transcript_variant	0.956[CEU]
rs3736690	intron_variant; NMD_transcript_variant	0.867[CEU]
rs4838820	upstream_gene_variant	0.867[CEU]; 1.0[TSI]
rs715619	intron_variant; NMD_transcript_variant	1.0[CEU]
rs4838811	5_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	0.956[CEU]; 0.936[TSI]
rs13055917	intron_variant; NMD_transcript_variant	0.955[CEU]; 1.0[TSI]
rs9617070	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1.0[CEU]
rs3810974	downstream_gene_variant; intron_variant	1.0[CEU]; 1.0[TSI]
rs3810972	downstream_gene_variant; intron_variant	1.0[CEU]
rs4838809	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs3736691	intron_variant; NMD_transcript_variant	1.0[CEU]
rs2272837	downstream_gene_variant; missense_variant; upstream_gene_variant	0.819[CEU]
rs3810973	downstream_gene_variant; intron_variant	1.0[CEU]; 1.0[TSI]
rs9617024	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[TSI]
rs9617105	downstream_gene_variant; intron_variant; upstream_gene_variant	0.955[CEU]
rs4838832	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 0.936[TSI]
rs4838845	intron_variant; NMD_transcript_variant	1.0[CEU]
rs8138886	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1.0[CEU]
rs2142851	intron_variant; NMD_transcript_variant	1.0[CEU]
rs9617062	intron_variant	0.866[CEU]
rs2015446	intron_variant; upstream_gene_variant	0.956[CEU]; 0.907[TSI]
rs9617099	intron_variant; NMD_transcript_variant	0.837[CEU]
rs4838828	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]
rs13058004	intron_variant; upstream_gene_variant	0.953[CEU]
rs2142850	intron_variant; NMD_transcript_variant	1.0[CEU]; 0.936[TSI]
rs2340602	intron_variant; NMD_transcript_variant	0.956[CEU]
rs4838823	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.956[CEU]; 1.0[TSI]
rs11101949	downstream_gene_variant; intron_variant; upstream_gene_variant	0.954[CEU]
rs2272835	downstream_gene_variant; intron_variant; upstream_gene_variant	0.956[CEU]; 0.936[TSI]
rs4838839	intron_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs12484523	intron_variant	0.867[CEU]
rs4240525	intron_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs4838830	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.956[CEU]; 1.0[TSI]
rs742183	intron_variant; NMD_transcript_variant	1.0[CEU]
rs9617083	intron_variant; NMD_transcript_variant	1.0[CEU]
rs732449	downstream_gene_variant; intron_variant; upstream_gene_variant	0.956[CEU]
rs2272838	downstream_gene_variant; synonymous_variant; upstream_gene_variant	0.956[CEU]; 0.936[TSI]
rs17836601	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]
rs760750	downstream_gene_variant; intron_variant; upstream_gene_variant	0.954[CEU]; 0.902[TSI]
rs9617037	intron_variant; NMD_transcript_variant	0.941[CEU]
rs9617100	intron_variant; NMD_transcript_variant	0.907[CEU]
rs9617036	intron_variant; NMD_transcript_variant	1.0[CEU]
rs2015453	intron_variant; upstream_gene_variant	0.956[CEU]; 0.907[TSI]
rs9617086	intron_variant; NMD_transcript_variant	0.95[CEU]
rs2340599	intron_variant; NMD_transcript_variant	1.0[CEU]
rs4838831	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 0.967[TSI]
rs9617066	3_prime_UTR_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.954[CEU]
rs4838843	intron_variant; NMD_transcript_variant	0.956[CEU]
rs2340601	3_prime_UTR_variant; missense_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs4838849	intron_variant; NMD_transcript_variant	0.956[CEU]
rs9617097	intron_variant; NMD_transcript_variant	0.909[CEU]
rs4838807	intron_variant; NMD_transcript_variant	1.0[CEU]
rs13053780	intron_variant	0.867[CEU]
rs2340597	intron_variant; upstream_gene_variant	0.956[CEU]; 1.0[TSI]
rs2235350	intron_variant	0.867[CEU]

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Severinsen, J. E., 2006 (b)	P-value = 0.3431 in SZ, P-value = 0.9874 in BD and SZ		Negative

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