rs80358073
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 rs80358073(G;T) |
Make rs80358073(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43049116 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358073 |
dbSNP (classic) | rs80358073 |
ClinGen | rs80358073 |
ebi | rs80358073 |
HLI | rs80358073 |
Exac | rs80358073 |
Gnomad | rs80358073 |
Varsome | rs80358073 |
LitVar | rs80358073 |
Map | rs80358073 |
PheGenI | rs80358073 |
Biobank | rs80358073 |
1000 genomes | rs80358073 |
hgdp | rs80358073 |
ensembl | rs80358073 |
geneview | rs80358073 |
scholar | rs80358073 |
rs80358073 | |
pharmgkb | rs80358073 |
gwascentral | rs80358073 |
openSNP | rs80358073 |
23andMe | rs80358073 |
SNPshot | rs80358073 |
SNPdbe | rs80358073 |
MSV3d | rs80358073 |
GWAS Ctlg | rs80358073 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80358073(A;A) rs80358073(C;C) rs80358073(T;T) |
Alt | rs80358073(A;A) rs80358073(C;C) rs80358073(T;T) |
Reference | Rs80358073(G;G) |
Significance | Other |
Disease | Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41201133C>A; NC_000017.10:g.41201133C>G; NC_000017.10:g.41201133C>T |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031248.5, RCV000160008.2, RCV000476190.1, RCV000048978.2, RCV000165857.2, RCV000258309.1, RCV000048977.2, RCV000077621.4, |