rs431825386
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 rs431825386(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094097 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs431825386 |
dbSNP (classic) | rs431825386 |
ClinGen | rs431825386 |
ebi | rs431825386 |
HLI | rs431825386 |
Exac | rs431825386 |
Gnomad | rs431825386 |
Varsome | rs431825386 |
LitVar | rs431825386 |
Map | rs431825386 |
PheGenI | rs431825386 |
Biobank | rs431825386 |
1000 genomes | rs431825386 |
hgdp | rs431825386 |
ensembl | rs431825386 |
geneview | rs431825386 |
scholar | rs431825386 |
rs431825386 | |
pharmgkb | rs431825386 |
gwascentral | rs431825386 |
openSNP | rs431825386 |
23andMe | rs431825386 |
SNPshot | rs431825386 |
SNPdbe | rs431825386 |
MSV3d | rs431825386 |
GWAS Ctlg | rs431825386 |
Max Magnitude | 6 |
BRCA1, c.1434delT (p.Glu479Lysfs)
ClinVar | |
---|---|
Risk | rs431825386(-;-) |
Alt | rs431825386(-;-) |
Reference | Rs431825386(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.41246114delA |
CLNSRC | ClinVar |
CLNACC | RCV000083021.3, |