BDgene

SNP Report

Basic Info
Name rs3134942 dbSNP Ensembl
Location chrCHR_HSCHR6_MHC_SSTO_CTG1:32208676 - 32208676(1)
Variant Alleles G/T
Ancestral Allele T
Minor Allele T
Minor Allele Frequence 0.0776757
Functional Annotation non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript non_coding_transcript_exon_variant(ENST00000474612); non_coding_transcript_variant(ENST00000474612); synonymous_variant(ENST00000375023); upstream_gene_variant(ENST00000491215, ENST00000466682, ENST00000466682, ENST00000425600, ENST00000487071, ENST00000485109, ENST00000485109, ENST00000437843, ENST00000470539, ENST00000471956, ENST00000471956, ENST00000454571, ENST00000474325, ENST00000465833, ENST00000465833, ENST00000439349, ENST00000474061, ENST00000476219, ENST00000476219, ENST00000383264, ENST00000468933, ENST00000495284, ENST00000495284, ENST00000457094, ENST00000497260)
No. of Studies 1 (Positive: 1; Negative: 0; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Andreassen OA, 2013 G/T Conditional FDR; BD loci given SCZ: P-value=0.00115, FDR=0.6...... Conditional FDR; BD loci given SCZ: P-value=0.00115, FDR=0.66028, FDR=0.04844 for BD and SCZ||Conjunction FDR; pleiotropic loci in SCZ and BD: FDR=0.048 for BD and SZ, Z-score=3.251 for BD More... This SNP is with conditional FDR<0.05 in schizophrenia given...... This SNP is with conditional FDR<0.05 in schizophrenia given association with bipolar disorder after 'pruning'. This SNP is with conjunction FDR<0.08 with schizophrenia and bipolar disorder considered jointly. More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
NOTCH4 notch 4 6p21.3 2(0/2/0)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Andreassen OA, 2013 Conditional FDR; BD loci given SCZ: FDR=0.04844 for BD and SCZ||Conjunction FDR; pleiotropic loci in SCZ and BD: FDR=0.048 for BD and SZ, Z-score=3.571 for SZ This SNP is with conditional FDR<0.05 in schizophrenia given association with bipolar disorder after 'pruning'. This SNP is with conjunction FDR<0.08 with schizophrenia and bipolar disorder considered jointly. Positive

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