rs273901751
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs273901751(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43063331 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273901751 |
dbSNP (classic) | rs273901751 |
ClinGen | rs273901751 |
ebi | rs273901751 |
HLI | rs273901751 |
Exac | rs273901751 |
Gnomad | rs273901751 |
Varsome | rs273901751 |
LitVar | rs273901751 |
Map | rs273901751 |
PheGenI | rs273901751 |
Biobank | rs273901751 |
1000 genomes | rs273901751 |
hgdp | rs273901751 |
ensembl | rs273901751 |
geneview | rs273901751 |
scholar | rs273901751 |
rs273901751 | |
pharmgkb | rs273901751 |
gwascentral | rs273901751 |
openSNP | rs273901751 |
23andMe | rs273901751 |
SNPshot | rs273901751 |
SNPdbe | rs273901751 |
MSV3d | rs273901751 |
GWAS Ctlg | rs273901751 |
Max Magnitude | 6 |
BRCA1, c.5193+2delT
ClinVar | |
---|---|
Risk | rs273901751(-;-) |
Alt | rs273901751(-;-) |
Reference | Rs273901751(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41215348delA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048850.2, RCV000083219.3, RCV000217180.1, |