rs398122630
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs398122630(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094204 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122630 |
dbSNP (classic) | rs398122630 |
ClinGen | rs398122630 |
ebi | rs398122630 |
HLI | rs398122630 |
Exac | rs398122630 |
Gnomad | rs398122630 |
Varsome | rs398122630 |
LitVar | rs398122630 |
Map | rs398122630 |
PheGenI | rs398122630 |
Biobank | rs398122630 |
1000 genomes | rs398122630 |
hgdp | rs398122630 |
ensembl | rs398122630 |
geneview | rs398122630 |
scholar | rs398122630 |
rs398122630 | |
pharmgkb | rs398122630 |
gwascentral | rs398122630 |
openSNP | rs398122630 |
23andMe | rs398122630 |
SNPshot | rs398122630 |
SNPdbe | rs398122630 |
MSV3d | rs398122630 |
GWAS Ctlg | rs398122630 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs398122630(T;T) |
Alt | rs398122630(T;T) |
Reference | Rs398122630(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Neoplasm of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Neoplasm of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41246221T>A |
CLNSRC | ClinVar |
CLNACC | RCV000077062.3, RCV000413037.1, |