rs81002797
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 rs81002797(G;T) |
Make rs81002797(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32326151 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002797 |
dbSNP (classic) | rs81002797 |
ClinGen | rs81002797 |
ebi | rs81002797 |
HLI | rs81002797 |
Exac | rs81002797 |
Gnomad | rs81002797 |
Varsome | rs81002797 |
LitVar | rs81002797 |
Map | rs81002797 |
PheGenI | rs81002797 |
Biobank | rs81002797 |
1000 genomes | rs81002797 |
hgdp | rs81002797 |
ensembl | rs81002797 |
geneview | rs81002797 |
scholar | rs81002797 |
rs81002797 | |
pharmgkb | rs81002797 |
gwascentral | rs81002797 |
openSNP | rs81002797 |
23andMe | rs81002797 |
SNPshot | rs81002797 |
SNPdbe | rs81002797 |
MSV3d | rs81002797 |
GWAS Ctlg | rs81002797 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs81002797(A;A) rs81002797(T;T) |
Alt | rs81002797(A;A) rs81002797(T;T) |
Reference | Rs81002797(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32900288G>A; NC_000013.10:g.32900288G>T |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044482.2, RCV000113644.3, RCV000044483.3, RCV000113645.1, RCV000162896.2, RCV000255387.1, |