BDgene

SNP Report

Basic Info
Name rs12476147 dbSNP Ensembl
Location chr2:184936178 - 184936178(1)
Variant Alleles A/T
Ancestral Allele T
Minor Allele A
Minor Allele Frequence 0.380791
Functional Annotation missense_variant.
Polyphen Annotation: benign(ENST00000302277, ENST00000613975)
SIFT Annotation: tolerated(ENST00000302277, ENST00000613975)
Consequence to Transcript missense_variant(ENST00000302277, ENST00000613975)
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
Guella, I., 2013 A/T P-value=0.868, X2=0.03 P-value=0.868, X2=0.03 No significant association was reported. No significant association was reported. Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
ZNF804A zinc finger protein 804A 2q32.1 6(3/3/0)

SNPs in LD with rs12476147 (count: 0) View in gBrowse (chr2:184936178..184936178 )

Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Guella, I., 2013 P-value=0.053, X2=3.75, P-value = 0.026, one tailed The minor A allele of the rs12476147 SNP, located in the exon 4 of the ZNF804A gene, showed association with an increased risk of SZ (p = 0.026, one tailed) using DFAM.. Negative

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