rs81002858
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | likely to be a BRCA2 variant pathogenic for breast cancer |
Make rs81002858(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32326497 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002858 |
dbSNP (classic) | rs81002858 |
ClinGen | rs81002858 |
ebi | rs81002858 |
HLI | rs81002858 |
Exac | rs81002858 |
Gnomad | rs81002858 |
Varsome | rs81002858 |
LitVar | rs81002858 |
Map | rs81002858 |
PheGenI | rs81002858 |
Biobank | rs81002858 |
1000 genomes | rs81002858 |
hgdp | rs81002858 |
ensembl | rs81002858 |
geneview | rs81002858 |
scholar | rs81002858 |
rs81002858 | |
pharmgkb | rs81002858 |
gwascentral | rs81002858 |
openSNP | rs81002858 |
23andMe | rs81002858 |
SNPshot | rs81002858 |
SNPdbe | rs81002858 |
MSV3d | rs81002858 |
GWAS Ctlg | rs81002858 |
Max Magnitude | 5 |
rs81002858, also known as c.517-2A>G, represents a BRCA2 gene mutation considered likely to be pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs81002858(C;C) rs81002858(G;G) |
Alt | rs81002858(C;C) rs81002858(G;G) |
Reference | Rs81002858(A;A) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32900634A>C; NC_000013.10:g.32900634A>G |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000144186.1, RCV000044589.3, RCV000077347.3, RCV000162897.2, RCV000221055.1, |