rs169547
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 1 | Benign variant |
(G;G) | 0 | common in complete genomics |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32355250 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs169547 |
dbSNP (classic) | rs169547 |
ClinGen | rs169547 |
ebi | rs169547 |
HLI | rs169547 |
Exac | rs169547 |
Gnomad | rs169547 |
Varsome | rs169547 |
LitVar | rs169547 |
Map | rs169547 |
PheGenI | rs169547 |
Biobank | rs169547 |
1000 genomes | rs169547 |
hgdp | rs169547 |
ensembl | rs169547 |
geneview | rs169547 |
scholar | rs169547 |
rs169547 | |
pharmgkb | rs169547 |
gwascentral | rs169547 |
openSNP | rs169547 |
23andMe | rs169547 |
SNPshot | rs169547 |
SNPdbe | rs169547 |
MSV3d | rs169547 |
GWAS Ctlg | rs169547 |
GMAF | 0.0225 |
Max Magnitude | 1 |
aka c.7397C>T (p.Ala2466Val); a benign BRCA2 variant
23andMe name: i5009334
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs169547(G;G) |
Alt | Rs169547(G;G) |
Reference | Rs169547(A;A) |
Significance | Non-pathogenic |
Disease | Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Ductal breast carcinoma |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Ductal breast carcinoma |
Reversed | 1 |
HGVS | NC_000013.10:g.32929387T\x3d; NC_000013.10:g.32929387T>C |
CLNSRC | HGMD |
CLNACC | RCV000113751.2, RCV000168597.1, RCV000203672.2, RCV000476057.1, RCV000120357.6, RCV000207137.1, |