rs273899709
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
Make rs273899709(AG;T) |
Make rs273899709(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43091981 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273899709 |
dbSNP (classic) | rs273899709 |
ClinGen | rs273899709 |
ebi | rs273899709 |
HLI | rs273899709 |
Exac | rs273899709 |
Gnomad | rs273899709 |
Varsome | rs273899709 |
LitVar | rs273899709 |
Map | rs273899709 |
PheGenI | rs273899709 |
Biobank | rs273899709 |
1000 genomes | rs273899709 |
hgdp | rs273899709 |
ensembl | rs273899709 |
geneview | rs273899709 |
scholar | rs273899709 |
rs273899709 | |
pharmgkb | rs273899709 |
gwascentral | rs273899709 |
openSNP | rs273899709 |
23andMe | rs273899709 |
SNPshot | rs273899709 |
SNPdbe | rs273899709 |
MSV3d | rs273899709 |
GWAS Ctlg | rs273899709 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs273899709(T;T) |
Alt | rs273899709(T;T) |
Reference | Rs273899709(AG;AG) |
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.41243998_41243999delCTinsA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048231.2, RCV000112117.3, |