rs730881461
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs730881461(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43092586 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs730881461 |
dbSNP (classic) | rs730881461 |
ClinGen | rs730881461 |
ebi | rs730881461 |
HLI | rs730881461 |
Exac | rs730881461 |
Gnomad | rs730881461 |
Varsome | rs730881461 |
LitVar | rs730881461 |
Map | rs730881461 |
PheGenI | rs730881461 |
Biobank | rs730881461 |
1000 genomes | rs730881461 |
hgdp | rs730881461 |
ensembl | rs730881461 |
geneview | rs730881461 |
scholar | rs730881461 |
rs730881461 | |
pharmgkb | rs730881461 |
gwascentral | rs730881461 |
openSNP | rs730881461 |
23andMe | rs730881461 |
SNPshot | rs730881461 |
SNPdbe | rs730881461 |
MSV3d | rs730881461 |
GWAS Ctlg | rs730881461 |
Max Magnitude | 6 |
BRCA1, c.2945delC (p.Pro982Hisfs)
ClinVar | |
---|---|
Risk | rs730881461(-;-) |
Alt | rs730881461(-;-) |
Reference | Rs730881461(C;C) |
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.41244603delG |
CLNSRC | |
CLNACC | RCV000159909.1, RCV000241071.1, |