rs80359771
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(CC;CC) | 0 | common in clinvar |
Make rs80359771(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32396976 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359771 |
dbSNP (classic) | rs80359771 |
ClinGen | rs80359771 |
ebi | rs80359771 |
HLI | rs80359771 |
Exac | rs80359771 |
Gnomad | rs80359771 |
Varsome | rs80359771 |
LitVar | rs80359771 |
Map | rs80359771 |
PheGenI | rs80359771 |
Biobank | rs80359771 |
1000 genomes | rs80359771 |
hgdp | rs80359771 |
ensembl | rs80359771 |
geneview | rs80359771 |
scholar | rs80359771 |
rs80359771 | |
pharmgkb | rs80359771 |
gwascentral | rs80359771 |
openSNP | rs80359771 |
23andMe | rs80359771 |
SNPshot | rs80359771 |
SNPdbe | rs80359771 |
MSV3d | rs80359771 |
GWAS Ctlg | rs80359771 |
Max Magnitude | 6 |
rs80359771, also known as 9808delCC, c.9580_9581delCC and p.Pro3194Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5010462
ClinVar | |
---|---|
Risk | rs80359771(-;-) |
Alt | rs80359771(-;-) |
Reference | Rs80359771(CC;CC) |
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.32971113_32971114delCC |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031832.6, RCV000045859.2, RCV000479821.1, |