rs80358523
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80358523(C;T) |
Make rs80358523(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32336961 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358523 |
dbSNP (classic) | rs80358523 |
ClinGen | rs80358523 |
ebi | rs80358523 |
HLI | rs80358523 |
Exac | rs80358523 |
Gnomad | rs80358523 |
Varsome | rs80358523 |
LitVar | rs80358523 |
Map | rs80358523 |
PheGenI | rs80358523 |
Biobank | rs80358523 |
1000 genomes | rs80358523 |
hgdp | rs80358523 |
ensembl | rs80358523 |
geneview | rs80358523 |
scholar | rs80358523 |
rs80358523 | |
pharmgkb | rs80358523 |
gwascentral | rs80358523 |
openSNP | rs80358523 |
23andMe | rs80358523 |
SNPshot | rs80358523 |
SNPdbe | rs80358523 |
MSV3d | rs80358523 |
GWAS Ctlg | rs80358523 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80358523(G;G) rs80358523(T;T) |
Alt | rs80358523(G;G) rs80358523(T;T) |
Reference | Rs80358523(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911098C>G; NC_000013.10:g.32911098C>T |
CLNSRC | |
CLNACC | RCV000238628.2, RCV000459261.1, RCV000044025.2, RCV000113070.1, RCV000163028.1, |