BDgene

SNP Report

Basic Info
Name rs939347 dbSNP Ensembl
Location chr17:40100440 - 40100440(1)
Variant Alleles G/A
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.323882
Functional Annotation 5_prime_UTR_variant.
Consequence to Transcript 5_prime_UTR_variant(ENST00000246672)
No. of Studies 2 (Positive: 0; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Kishi, T., 2008 (b) A > G G Hardy-Weinberg equilibrium P value=0.367, genotypic P value=...... Hardy-Weinberg equilibrium P value=0.367, genotypic P value=0.462, allelic P value=0.852 for bipolor disorder. Hardy-Weinberg equilibrium P value=0.261, genotypic P value=0.235, allelic P value=0.353 for bipolor I disorder. Hardy-Weinberg equilibrium P value=0.998, genotypic P value=0.842, allelic P value=0.886 for bipolor II disorder. More... Negative
Severino, G.,2009 A/G Alelle association: X2=1.15, P-value = 0.28; Geno...... Alelle association: X2=1.15, P-value = 0.28; Genotype association: X2=1.07, P-value = 0.30 More... Genotype and allele frequency distributions did not differ s...... Genotype and allele frequency distributions did not differ significantly between cases and controls. More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
NR1D1 nuclear receptor subfamily 1, group D, member 1 17q11.2 6(2/4/0)

SNPs in LD with rs939347 (count: 2) View in gBrowse (chr17:40099932..40100837 )
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: 2)


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

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Kishi, T., 2008 (b) Hardy-Weinberg equilibrium P value=0.178, genotypic P value=0.907, allelic P value=0.831 for MDD. No significant association was found with major depressive disorder. Negative