BDgene

SNP Report

Basic Info
Name rs2071427 dbSNP Ensembl
Location chr17:40098239 - 40098239(1)
Variant Alleles C/T
Ancestral Allele T
Minor Allele T
Minor Allele Frequence 0.470248
Functional Annotation downstream_gene_variant; intron_variant.
Consequence to Transcript downstream_gene_variant(ENST00000264637, ENST00000394121, ENST00000584985); intron_variant(ENST00000246672)
No. of Studies 3 (Positive: 1; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Kishi, T., 2008 (b) G > A A Hardy-Weinberg equilibrium P value=0.706, genotypic P value=...... Hardy-Weinberg equilibrium P value=0.706, genotypic P value=0.873, allelic P value=0.891 for bipolor disorder. Hardy-Weinberg equilibrium P value=0.186, genotypic P value=0.558, allelic P value=0.902 for bipolor I disorder. Hardy-Weinberg equilibrium P value=0.265, genotypic P value=0.528, allelic P value=0.936 for bipolor II disorder. More... Negative
Soria, V.,2010 X2-tests: allele P-value > 0.05, genotype P-value...... X2-tests: allele P-value > 0.05, genotype P-value > 0.05 in all model More... No significant association was observed in BD. No significant association was observed in BD. Negative
Kripke, D. F.,2009 A/G TDT: In BP: OR=0.746, CHISQ=9.452, P-value = 0.0021, empiric...... TDT: In BP: OR=0.746, CHISQ=9.452, P-value = 0.0021, empirical P-value = 0.0019, corrected empirical P-value = 0.2852 More... Significant association was observed in the BP group. Significant association was observed in the BP group. Positive

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
THRA thyroid hormone receptor, alpha 17q21.1 1(1/0/0)
NR1D1 nuclear receptor subfamily 1, group D, member 1 17q11.2 6(2/4/0)

SNPs in LD with rs2071427 (count: 0) View in gBrowse (chr17:40098239..40098239 )

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

Overlap with MDD from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Kishi, T., 2008 (b) Hardy-Weinberg equilibrium P value=0.600, genotypic P value=0.911, allelic P value=0.706 for MDD. No significant association was found with major depressive disorder. Negative
Soria, V.,2010 X2-tests:allele P-value = 0.235, Model Recessive, genotype P-value = 0.039, OR(95%CI)=1.80 (1.03-3.16) Significant association was found. Positive