rs2230782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 2 | 0.45x reduced risk for breast cancer |
(C;G) | 0 | |
(G;G) | 0 | common on affy axiom data |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 47636144 |
Gene | NCOA3 |
is a | snp |
is | mentioned by |
dbSNP | rs2230782 |
dbSNP (classic) | rs2230782 |
ClinGen | rs2230782 |
ebi | rs2230782 |
HLI | rs2230782 |
Exac | rs2230782 |
Gnomad | rs2230782 |
Varsome | rs2230782 |
LitVar | rs2230782 |
Map | rs2230782 |
PheGenI | rs2230782 |
Biobank | rs2230782 |
1000 genomes | rs2230782 |
hgdp | rs2230782 |
ensembl | rs2230782 |
geneview | rs2230782 |
scholar | rs2230782 |
rs2230782 | |
pharmgkb | rs2230782 |
gwascentral | rs2230782 |
openSNP | rs2230782 |
23andMe | rs2230782 |
SNPshot | rs2230782 |
SNPdbe | rs2230782 |
MSV3d | rs2230782 |
GWAS Ctlg | rs2230782 |
GMAF | 0.05785 |
Max Magnitude | 2 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
rs2230782, also known as Q586H, is a SNP in the nuclear receptor coactivator 3 NCOA3 gene; this gene is also known as SRC-3 or AIB1.
A study of 1,218 familial BRCA1/2-mutation negative breast cancer cases and 1,509 matched controls strengthened a (previously reported) protective effect of rs2230782. The reported odds ratio for rs2230782(C;C) homozygotes is 0.45 (CI: 0.21-0.98).[PMID 20003447]
[PMID 19470168] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.
[PMID 20180986] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.