rs80358009
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80358009(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43047641 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358009 |
dbSNP (classic) | rs80358009 |
ClinGen | rs80358009 |
ebi | rs80358009 |
HLI | rs80358009 |
Exac | rs80358009 |
Gnomad | rs80358009 |
Varsome | rs80358009 |
LitVar | rs80358009 |
Map | rs80358009 |
PheGenI | rs80358009 |
Biobank | rs80358009 |
1000 genomes | rs80358009 |
hgdp | rs80358009 |
ensembl | rs80358009 |
geneview | rs80358009 |
scholar | rs80358009 |
rs80358009 | |
pharmgkb | rs80358009 |
gwascentral | rs80358009 |
openSNP | rs80358009 |
23andMe | rs80358009 |
SNPshot | rs80358009 |
SNPdbe | rs80358009 |
MSV3d | rs80358009 |
GWAS Ctlg | rs80358009 |
Max Magnitude | 6 |
aka c.5467+2T>C
ClinVar | |
---|---|
Risk | rs80358009(C;C) rs80358009(G;G) |
Alt | rs80358009(C;C) rs80358009(G;G) |
Reference | Rs80358009(T;T) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41199658A>C; NC_000017.10:g.41199658A>G |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000112660.1, RCV000112659.1, RCV000162889.1, |