rs398122650
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 rs398122650(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093610 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122650 |
dbSNP (classic) | rs398122650 |
ClinGen | rs398122650 |
ebi | rs398122650 |
HLI | rs398122650 |
Exac | rs398122650 |
Gnomad | rs398122650 |
Varsome | rs398122650 |
LitVar | rs398122650 |
Map | rs398122650 |
PheGenI | rs398122650 |
Biobank | rs398122650 |
1000 genomes | rs398122650 |
hgdp | rs398122650 |
ensembl | rs398122650 |
geneview | rs398122650 |
scholar | rs398122650 |
rs398122650 | |
pharmgkb | rs398122650 |
gwascentral | rs398122650 |
openSNP | rs398122650 |
23andMe | rs398122650 |
SNPshot | rs398122650 |
SNPdbe | rs398122650 |
MSV3d | rs398122650 |
GWAS Ctlg | rs398122650 |
Max Magnitude | 6 |
BRCA1, c.1921delA (p.Ile641Leufs)
ClinVar | |
---|---|
Risk | rs398122650(-;-) |
Alt | rs398122650(-;-) |
Reference | Rs398122650(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.41245627delT |
CLNSRC | ClinVar |
CLNACC | RCV000077088.3, |