rs81002897
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs81002897(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32326614 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002897 |
dbSNP (classic) | rs81002897 |
ClinGen | rs81002897 |
ebi | rs81002897 |
HLI | rs81002897 |
Exac | rs81002897 |
Gnomad | rs81002897 |
Varsome | rs81002897 |
LitVar | rs81002897 |
Map | rs81002897 |
PheGenI | rs81002897 |
Biobank | rs81002897 |
1000 genomes | rs81002897 |
hgdp | rs81002897 |
ensembl | rs81002897 |
geneview | rs81002897 |
scholar | rs81002897 |
rs81002897 | |
pharmgkb | rs81002897 |
gwascentral | rs81002897 |
openSNP | rs81002897 |
23andMe | rs81002897 |
SNPshot | rs81002897 |
SNPdbe | rs81002897 |
MSV3d | rs81002897 |
GWAS Ctlg | rs81002897 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs81002897(A;A) rs81002897(C;C) |
Alt | rs81002897(A;A) rs81002897(C;C) |
Reference | Rs81002897(G;G) |
Significance | Pathogenic |
Disease | Fanconi anemia Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32900751G>A; NC_000013.10:g.32900751G>C |
CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
CLNACC | RCV000009942.4, RCV000044895.3, RCV000113913.1, RCV000131851.3, RCV000485170.1, |