rs398122791
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs398122791(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339409 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122791 |
dbSNP (classic) | rs398122791 |
ClinGen | rs398122791 |
ebi | rs398122791 |
HLI | rs398122791 |
Exac | rs398122791 |
Gnomad | rs398122791 |
Varsome | rs398122791 |
LitVar | rs398122791 |
Map | rs398122791 |
PheGenI | rs398122791 |
Biobank | rs398122791 |
1000 genomes | rs398122791 |
hgdp | rs398122791 |
ensembl | rs398122791 |
geneview | rs398122791 |
scholar | rs398122791 |
rs398122791 | |
pharmgkb | rs398122791 |
gwascentral | rs398122791 |
openSNP | rs398122791 |
23andMe | rs398122791 |
SNPshot | rs398122791 |
SNPdbe | rs398122791 |
MSV3d | rs398122791 |
GWAS Ctlg | rs398122791 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs398122791(A;A) |
Alt | rs398122791(A;A) |
Reference | Rs398122791(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32913546C>A |
CLNSRC | ClinVar |
CLNACC | RCV000077740.4, RCV000255153.1, |