SNP Report

Basic Info

Name	rs1722550 dbSNP Ensembl
Location	chr19:51001825 - 51001825(1)
Variant Alleles	C/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.4373
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000544410, ENST00000594211); intron_variant(ENST00000250366, ENST00000594512, ENST00000595238, ENST00000599166, ENST00000600767); NMD_transcript_variant(ENST00000250366, ENST00000599166); non_coding_transcript_variant(ENST00000594512); upstream_gene_variant(ENST00000291726, ENST00000320838, ENST00000347619, ENST00000391806, ENST00000593490, ENST00000594669, ENST00000594914, ENST00000598195, ENST00000599710)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Izumi, A., 2008	G-658>C		Genotype frequency (df=2) X²=7.47, P value=0.023 ...... Genotype frequency (df=2) X²=7.47, P value=0.023 . Allele frequency (df=1) X²=5.35, P value=0.019 in Patients with BD vs controls. More...	A significant allelic association was found between SNP and ...... A significant allelic association was found between SNP and bipolar disorder More...	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
KLK9	kallikrein-related peptidase 9	19q13.33	Mapped by Literature SNP
KLK8	kallikrein-related peptidase 8	19q13	1(1/0/0)

SNPs in LD with rs1722550 (count: 11) View in gBrowse (chr19:50992705..51011889 )

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: 11)

rs_ID	Functional Annotation	r²[population]
rs1654542	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.805[CHB]
rs2222554	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.825[JPT]
rs2659095	3_prime_UTR_variant; 5_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs1701916	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.805[CHB]
rs2569456	3_prime_UTR_variant; 5_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.939[JPT]
rs6509509	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs2075802	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	0.852[CHB]; 0.88[JPT]
rs1654539	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.805[CHB]
rs1532901	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.805[CHB]
rs1701921	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.805[CHB]
rs2659096	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.939[JPT]

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

Reference	Statistical Result	Description	Result Category
Izumi, A., 2008	Genotype frequency (df=2) X²=1.97, P value=0.37. Allele frequency (df=1) X²=0.62, P value=0.43 in Patients with SZ vs controls.	There was no significant difference in genotype or allele distribution for any SNP between patients and controls for schizophrenia or major depression.	Negative

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

Reference	Statistical Result	Description	Result Category
Izumi, A., 2008	Genotype frequency (df=2) X²=0.5, P value=0.78 . Allele frequency (df=1) X²=0.58, P value=0.47 in Patients with MD vs controls.	There was no significant difference in genotype or allele distribution for any SNP between patients and controls for schizophrenia or major depression.	Negative