rs80357065
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80357065(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43049168 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357065 |
dbSNP (classic) | rs80357065 |
ClinGen | rs80357065 |
ebi | rs80357065 |
HLI | rs80357065 |
Exac | rs80357065 |
Gnomad | rs80357065 |
Varsome | rs80357065 |
LitVar | rs80357065 |
Map | rs80357065 |
PheGenI | rs80357065 |
Biobank | rs80357065 |
1000 genomes | rs80357065 |
hgdp | rs80357065 |
ensembl | rs80357065 |
geneview | rs80357065 |
scholar | rs80357065 |
rs80357065 | |
pharmgkb | rs80357065 |
gwascentral | rs80357065 |
openSNP | rs80357065 |
23andMe | rs80357065 |
SNPshot | rs80357065 |
SNPdbe | rs80357065 |
MSV3d | rs80357065 |
GWAS Ctlg | rs80357065 |
Max Magnitude | 6 |
c.5359T>A (p.Cys1787Ser)
Clinical significance in ClinVar: now considered pathogenic for breast cancer by consensus
ClinVar | |
---|---|
Risk | rs80357065(A;A) |
Alt | rs80357065(A;A) |
Reference | Rs80357065(T;T) |
Significance | Pathogenic |
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.41201185A>T |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation |
CLNACC | RCV000048957.2, RCV000077619.5, |