rs273901765
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 rs273901765(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43049119 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273901765 |
dbSNP (classic) | rs273901765 |
ClinGen | rs273901765 |
ebi | rs273901765 |
HLI | rs273901765 |
Exac | rs273901765 |
Gnomad | rs273901765 |
Varsome | rs273901765 |
LitVar | rs273901765 |
Map | rs273901765 |
PheGenI | rs273901765 |
Biobank | rs273901765 |
1000 genomes | rs273901765 |
hgdp | rs273901765 |
ensembl | rs273901765 |
geneview | rs273901765 |
scholar | rs273901765 |
rs273901765 | |
pharmgkb | rs273901765 |
gwascentral | rs273901765 |
openSNP | rs273901765 |
23andMe | rs273901765 |
SNPshot | rs273901765 |
SNPdbe | rs273901765 |
MSV3d | rs273901765 |
GWAS Ctlg | rs273901765 |
Max Magnitude | 6 |
BRCA1, c.5406+2delT
ClinVar | |
---|---|
Risk | rs273901765(-;-) |
Alt | rs273901765(-;-) |
Reference | Rs273901765(T;T) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41201136delA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000112634.1, |