SNP Report

Basic Info

Name	rs3811993 dbSNP Ensembl
Location	chr5:161689666 - 161689666(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.0165735
Functional Annotation	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: possibly damaging(ENST00000520000, ENST00000517823); probably damaging(ENST00000274545, ENST00000523217, ENST00000523691) SIFT Annotation: tolerated(ENST00000517823); deleterious(ENST00000520000, ENST00000274545, ENST00000523217, ENST00000523691)
Consequence to Transcript	downstream_gene_variant(ENST00000518888, ENST00000522269, ENST00000524220); missense_variant(ENST00000520000, ENST00000517823, ENST00000274545, ENST00000523217, ENST00000523691); non_coding_transcript_exon_variant(ENST00000521520); non_coding_transcript_variant(ENST00000521520); upstream_gene_variant(ENST00000521984)
No. of Studies	1 (Positive: 1; Negative: 0; 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
Ament, S. A., 2015			P-value=3.0e-5; q=8.9e-2 P-value=3.0e-5; q=8.9e-2	The top associated SNV was a missense SNV. The top associated SNV was a missense SNV.	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
GABRA6	gamma-aminobutyric acid (GABA) A receptor, alpha 6	5q34	1(0/1/0)

SNPs in LD with rs3811993 (count: 0) View in gBrowse (chr5:161689666..161689666 )

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

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