BDgene

SNP Report

Basic Info
Name rs514743 dbSNP Ensembl
Location chr15:78591885 - 78591885(1)
Variant Alleles T/A
Ancestral Allele A
Minor Allele T
Minor Allele Frequence 0.241214
Functional Annotation downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000326828, ENST00000348639, ENST00000559002, ENST00000559658); intron_variant(ENST00000299565, ENST00000394802, ENST00000559554, ENST00000559576); upstream_gene_variant(ENST00000567141)
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
Shi, J., 2007 A/T TDT P-value = 0.031 of Allelic Association With Bipolar Diso...... TDT P-value = 0.031 of Allelic Association With Bipolar Disorder in the Combined Sample More... the SNP showed nominally significant association with BD, bu...... the SNP showed nominally significant association with BD, but the association failed to maintain significance after correction for multiple testing by permutation More... Positive

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) 15q24 3(2/1/0)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) 15q24 3(1/2/0)

SNPs in LD with rs514743 (count: 21) View in gBrowse (chr15:78529723..78619661 )
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: 21)


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

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