rs80357164
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 rs80357164(A;A) |
Make rs80357164(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43115745 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357164 |
dbSNP (classic) | rs80357164 |
ClinGen | rs80357164 |
ebi | rs80357164 |
HLI | rs80357164 |
Exac | rs80357164 |
Gnomad | rs80357164 |
Varsome | rs80357164 |
LitVar | rs80357164 |
Map | rs80357164 |
PheGenI | rs80357164 |
Biobank | rs80357164 |
1000 genomes | rs80357164 |
hgdp | rs80357164 |
ensembl | rs80357164 |
geneview | rs80357164 |
scholar | rs80357164 |
rs80357164 | |
pharmgkb | rs80357164 |
gwascentral | rs80357164 |
openSNP | rs80357164 |
23andMe | rs80357164 |
SNPshot | rs80357164 |
SNPdbe | rs80357164 |
MSV3d | rs80357164 |
GWAS Ctlg | rs80357164 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80357164(A;A) rs80357164(C;C) rs80357164(G;G) |
Alt | rs80357164(A;A) rs80357164(C;C) rs80357164(G;G) |
Reference | Rs80357164(T;T) |
Significance | Other |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41267762A>C; NC_000017.10:g.41267762A>G; NC_000017.10:g.41267762A>T |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation |
CLNACC | RCV000047367.2, RCV000258451.1, RCV000047366.2, RCV000077483.5, RCV000047365.2, RCV000111803.1, |