rs273899687
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs273899687(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43092845 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273899687 |
dbSNP (classic) | rs273899687 |
ClinGen | rs273899687 |
ebi | rs273899687 |
HLI | rs273899687 |
Exac | rs273899687 |
Gnomad | rs273899687 |
Varsome | rs273899687 |
LitVar | rs273899687 |
Map | rs273899687 |
PheGenI | rs273899687 |
Biobank | rs273899687 |
1000 genomes | rs273899687 |
hgdp | rs273899687 |
ensembl | rs273899687 |
geneview | rs273899687 |
scholar | rs273899687 |
rs273899687 | |
pharmgkb | rs273899687 |
gwascentral | rs273899687 |
openSNP | rs273899687 |
23andMe | rs273899687 |
SNPshot | rs273899687 |
SNPdbe | rs273899687 |
MSV3d | rs273899687 |
GWAS Ctlg | rs273899687 |
Max Magnitude | 6 |
rs273899687, also known as 2805delA, c.2686_2686delA and p.Ser896Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273899687(-;-) |
Alt | rs273899687(-;-) |
Reference | Rs273899687(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41244862delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000111918.2, |