rs80356913
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80356913(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43106456 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356913 |
dbSNP (classic) | rs80356913 |
ClinGen | rs80356913 |
ebi | rs80356913 |
HLI | rs80356913 |
Exac | rs80356913 |
Gnomad | rs80356913 |
Varsome | rs80356913 |
LitVar | rs80356913 |
Map | rs80356913 |
PheGenI | rs80356913 |
Biobank | rs80356913 |
1000 genomes | rs80356913 |
hgdp | rs80356913 |
ensembl | rs80356913 |
geneview | rs80356913 |
scholar | rs80356913 |
rs80356913 | |
pharmgkb | rs80356913 |
gwascentral | rs80356913 |
openSNP | rs80356913 |
23andMe | rs80356913 |
SNPshot | rs80356913 |
SNPdbe | rs80356913 |
MSV3d | rs80356913 |
GWAS Ctlg | rs80356913 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80356913(A;A) rs80356913(C;C) rs80356913(T;T) |
Alt | rs80356913(A;A) rs80356913(C;C) rs80356913(T;T) |
Reference | Rs80356913(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41258473C>A; NC_000017.10:g.41258473C>G; NC_000017.10:g.41258473C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000165177.1, RCV000258240.1, RCV000258471.1, RCV000047724.2, RCV000112023.1, |