rs81002862
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs81002862(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32380005 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002862 |
dbSNP (classic) | rs81002862 |
ClinGen | rs81002862 |
ebi | rs81002862 |
HLI | rs81002862 |
Exac | rs81002862 |
Gnomad | rs81002862 |
Varsome | rs81002862 |
LitVar | rs81002862 |
Map | rs81002862 |
PheGenI | rs81002862 |
Biobank | rs81002862 |
1000 genomes | rs81002862 |
hgdp | rs81002862 |
ensembl | rs81002862 |
geneview | rs81002862 |
scholar | rs81002862 |
rs81002862 | |
pharmgkb | rs81002862 |
gwascentral | rs81002862 |
openSNP | rs81002862 |
23andMe | rs81002862 |
SNPshot | rs81002862 |
SNPdbe | rs81002862 |
MSV3d | rs81002862 |
GWAS Ctlg | rs81002862 |
Max Magnitude | 6 |
aka c.9118-2A>G as well as c.9118-2A>C and c.9118-2A>T
23andMe name for the c.9118-2A>G variant: i5010629
ClinVar | |
---|---|
Risk | rs81002862(C;C) rs81002862(G;G) rs81002862(T;T) |
Alt | rs81002862(C;C) rs81002862(G;G) rs81002862(T;T) |
Reference | Rs81002862(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32954142A>C; NC_000013.10:g.32954142A>G; NC_000013.10:g.32954142A>T |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000258415.1, RCV000045727.4, RCV000077460.3, RCV000212285.2, RCV000258235.1, |