BDgene

SNP Report

Basic Info
Name rs3094228 dbSNP Ensembl
Location chrCHR_HSCHR6_MHC_SSTO_CTG1:31452864 - 31452864(1)
Variant Alleles T/C
Ancestral Allele T
Minor Allele C
Minor Allele Frequence 0.189097
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000440087); intron_variant(ENST00000414046); non_coding_transcript_variant(ENST00000414046); upstream_gene_variant(ENST00000460889, ENST00000467369, ENST00000541196, ENST00000419355, ENST00000438873, ENST00000423496, ENST00000447631)
No. of Studies 1 (Positive: 0; Negative: 1; 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
Bergen, S. E.,2012 T logistic regression: P-value > E-05 logistic regression: P-value > E-05 No significant association was observed in BD. No significant association was observed in BD. Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
HCP5 HLA complex P5 (non-protein coding) 6p21.3 Mapped by Literature SNP

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: 13)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Bergen, S. E.,2012 logistic regression:for SZ full sample, OR=1.31, P-value = 5.96E-06 No significant association was observed in SZ. Negative

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