BDgene

SNP Report

Basic Info
Name rs2230944 dbSNP Ensembl
Location chr12:124336867 - 124336867(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.0583067
Functional Annotation downstream_gene_variant; missense_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000356219, ENST00000404121, ENST00000404621, ENST00000405201, ENST00000429285)
SIFT Annotation: tolerated - low confidence(ENST00000404621, ENST00000405201, ENST00000429285); tolerated(ENST00000356219, ENST00000404121)
Consequence to Transcript downstream_gene_variant(ENST00000440187, ENST00000453428, ENST00000622851); missense_variant(ENST00000356219, ENST00000404121, ENST00000404621, ENST00000405201, ENST00000429285); upstream_gene_variant(ENST00000418829, ENST00000440337, ENST00000443451, ENST00000461081, ENST00000474079)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Shink, E.,2005(b) P2004S Allelic analysis: T1 P-value = 1.000, OR (95% CI)=0.96(0.41-...... Allelic analysis: T1 P-value = 1.000, OR (95% CI)=0.96(0.41-2.24); genotypic analysis: T1 P-value = 1, T3 P-value = 1 More... No significant association was observed. No significant association was observed. Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
NCOR2 nuclear receptor corepressor 2 12q24 1(0/1/0)

SNPs in LD with rs2230944 (count: 1) View in gBrowse (chr12:124336867..124452057 )
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: 1)


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

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