rs81002889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs81002889(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32394688 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002889 |
dbSNP (classic) | rs81002889 |
ClinGen | rs81002889 |
ebi | rs81002889 |
HLI | rs81002889 |
Exac | rs81002889 |
Gnomad | rs81002889 |
Varsome | rs81002889 |
LitVar | rs81002889 |
Map | rs81002889 |
PheGenI | rs81002889 |
Biobank | rs81002889 |
1000 genomes | rs81002889 |
hgdp | rs81002889 |
ensembl | rs81002889 |
geneview | rs81002889 |
scholar | rs81002889 |
rs81002889 | |
pharmgkb | rs81002889 |
gwascentral | rs81002889 |
openSNP | rs81002889 |
23andMe | rs81002889 |
SNPshot | rs81002889 |
SNPdbe | rs81002889 |
MSV3d | rs81002889 |
GWAS Ctlg | rs81002889 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs81002889(A;A) rs81002889(C;C) |
Alt | rs81002889(A;A) rs81002889(C;C) |
Reference | Rs81002889(G;G) |
Significance | Other |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32968825G>A; NC_000013.10:g.32968825G>C |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045766.2, RCV000164703.1, RCV000045767.5, RCV000083156.4, RCV000131040.3, RCV000212288.2, |