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