rs273900736
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs273900736(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43074490 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273900736 |
dbSNP (classic) | rs273900736 |
ClinGen | rs273900736 |
ebi | rs273900736 |
HLI | rs273900736 |
Exac | rs273900736 |
Gnomad | rs273900736 |
Varsome | rs273900736 |
LitVar | rs273900736 |
Map | rs273900736 |
PheGenI | rs273900736 |
Biobank | rs273900736 |
1000 genomes | rs273900736 |
hgdp | rs273900736 |
ensembl | rs273900736 |
geneview | rs273900736 |
scholar | rs273900736 |
rs273900736 | |
pharmgkb | rs273900736 |
gwascentral | rs273900736 |
openSNP | rs273900736 |
23andMe | rs273900736 |
SNPshot | rs273900736 |
SNPdbe | rs273900736 |
MSV3d | rs273900736 |
GWAS Ctlg | rs273900736 |
Max Magnitude | 6 |
rs273900736, also known as 4635delG, c.4516_4516delG and p.Asp1506Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273900736(-;-) |
Alt | rs273900736(-;-) |
Reference | Rs273900736(G;G) |
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.41226507delC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048584.2, RCV000112352.3, |