rs11655505
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs11655505(A;A) |
Make rs11655505(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43126360 |
Gene | BRCA1, NBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs11655505 |
dbSNP (classic) | rs11655505 |
ClinGen | rs11655505 |
ebi | rs11655505 |
HLI | rs11655505 |
Exac | rs11655505 |
Gnomad | rs11655505 |
Varsome | rs11655505 |
LitVar | rs11655505 |
Map | rs11655505 |
PheGenI | rs11655505 |
Biobank | rs11655505 |
1000 genomes | rs11655505 |
hgdp | rs11655505 |
ensembl | rs11655505 |
geneview | rs11655505 |
scholar | rs11655505 |
rs11655505 | |
pharmgkb | rs11655505 |
gwascentral | rs11655505 |
openSNP | rs11655505 |
23andMe | rs11655505 |
SNPshot | rs11655505 |
SNPdbe | rs11655505 |
MSV3d | rs11655505 |
GWAS Ctlg | rs11655505 |
GMAF | 0.3274 |
Max Magnitude | 0 |
Although BRCA1 gene SNP rs11655505(T) is mentioned in PharmGKB as having a protective association with risk for breast cancer, a more recent study of 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies found no evidence for any association between rs11655505 and breast cancer risk.[PMID 20413709]
[PMID 23263908] Association of BRCA1 promoter methylation with rs11655505 (c.2265C>T) variants and decreased gene expression in sporadic breast cancer.
ClinVar | |
---|---|
Risk | rs11655505(A;A) |
Alt | rs11655505(A;A) |
Reference | Rs11655505(G;G) |
Significance | Non-pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | NBR2 BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.41278377G>A |
CLNSRC | |
CLNACC | RCV000191529.1, |