rs81002846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs81002846(A;A) |
Make rs81002846(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32331031 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002846 |
dbSNP (classic) | rs81002846 |
ClinGen | rs81002846 |
ebi | rs81002846 |
HLI | rs81002846 |
Exac | rs81002846 |
Gnomad | rs81002846 |
Varsome | rs81002846 |
LitVar | rs81002846 |
Map | rs81002846 |
PheGenI | rs81002846 |
Biobank | rs81002846 |
1000 genomes | rs81002846 |
hgdp | rs81002846 |
ensembl | rs81002846 |
geneview | rs81002846 |
scholar | rs81002846 |
rs81002846 | |
pharmgkb | rs81002846 |
gwascentral | rs81002846 |
openSNP | rs81002846 |
23andMe | rs81002846 |
SNPshot | rs81002846 |
SNPdbe | rs81002846 |
MSV3d | rs81002846 |
GWAS Ctlg | rs81002846 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs81002846(A;A) rs81002846(T;T) |
Alt | rs81002846(A;A) rs81002846(T;T) |
Reference | Rs81002846(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not specified Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32905168G>A; NC_000013.10:g.32905168G>T |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045345.3, RCV000112827.1, RCV000239312.1, RCV000045346.2, RCV000112828.1, |