rs11571746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 2 | |
(C;T) | 1 | Benign or at worst a very minor risk factor |
(T;T) | 0 | common in complete genomics |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32370971 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs11571746 |
dbSNP (classic) | rs11571746 |
ClinGen | rs11571746 |
ebi | rs11571746 |
HLI | rs11571746 |
Exac | rs11571746 |
Gnomad | rs11571746 |
Varsome | rs11571746 |
LitVar | rs11571746 |
Map | rs11571746 |
PheGenI | rs11571746 |
Biobank | rs11571746 |
1000 genomes | rs11571746 |
hgdp | rs11571746 |
ensembl | rs11571746 |
geneview | rs11571746 |
scholar | rs11571746 |
rs11571746 | |
pharmgkb | rs11571746 |
gwascentral | rs11571746 |
openSNP | rs11571746 |
23andMe | rs11571746 |
SNPshot | rs11571746 |
SNPdbe | rs11571746 |
MSV3d | rs11571746 |
GWAS Ctlg | rs11571746 |
GMAF | 0.0009183 |
Max Magnitude | 2 |
aka c.8503T>C (p.Ser2835Pro)
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
For this particular SNP, the risk (minor) allele is (C).
23andMe name: i5009299
ClinVar | |
---|---|
Risk | Rs11571746(C;C) |
Alt | Rs11571746(C;C) |
Reference | Rs11571746(T;T) |
Significance | Other |
Disease | Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32945108T>C |
CLNSRC | Ambry Genetics ClinVar Counsyl GeneDx |
CLNACC | RCV000113950.4, RCV000120364.6, RCV000129146.2, RCV000167840.7, |