SNP Report

Basic Info

Name	rs6738031 dbSNP Ensembl
Location	chr2:166423412 - 166423412(1)
Variant Alleles	C/A
Ancestral Allele	A
Minor Allele	C
Minor Allele Frequence	0.255391
Functional Annotation	3_prime_UTR_variant; missense_variant; NMD_transcript_variant. Polyphen Annotation: benign(ENST00000409855, ENST00000619410, ENST00000621965) SIFT Annotation: tolerated(ENST00000409855, ENST00000619410, ENST00000621965)
Consequence to Transcript	3_prime_UTR_variant(ENST00000424326); missense_variant(ENST00000409855, ENST00000619410, ENST00000621965); NMD_transcript_variant(ENST00000424326)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Xu, W., 2014			P(unadj)-value=0.000589,Â OR (unadj)=0.7816,Â P(adj)-value=0...... P(unadj)-value=0.000589,Â OR (unadj)=0.7816,Â P(adj)-value=0.001265,Â OR(adj)=0.7927 More...	Listing suggestive significant genic SNPs for combined Toron...... Listing suggestive significant genic SNPs for combined Toronto and London GWAS for which there are 4 or more suggestive significant SNPs among the top 1000, and for which no other positive reports have been published to date. More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
SCN7A	sodium channel, voltage gated, type VII alpha subunit	2q21-q23	1(0/1/0)

SNPs in LD with rs6738031 (count: 10) View in gBrowse (chr2:166423412..166502173 )

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

rs_ID	Functional Annotation	r²[population]
rs7563854	downstream_gene_variant; intron_variant; NMD_transcript_variant	1.0[CEU]
rs13430883		0.861[TSI]
rs13014266	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.82[CEU]
rs6738638	downstream_gene_variant; intron_variant; NMD_transcript_variant	1.0[CEU]
rs1172383	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs5024296	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs2293567	intron_variant; NMD_transcript_variant	0.95[CEU]; 0.951[TSI]
rs6741870	intron_variant; NMD_transcript_variant	1.0[CEU]
rs4550683	downstream_gene_variant; intron_variant; NMD_transcript_variant	1.0[CEU]
rs6735176	upstream_gene_variant	0.953[CEU]; 0.952[TSI]

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

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