rs397508055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs397508055(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32394930 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397508055 |
dbSNP (classic) | rs397508055 |
ClinGen | rs397508055 |
ebi | rs397508055 |
HLI | rs397508055 |
Exac | rs397508055 |
Gnomad | rs397508055 |
Varsome | rs397508055 |
LitVar | rs397508055 |
Map | rs397508055 |
PheGenI | rs397508055 |
Biobank | rs397508055 |
1000 genomes | rs397508055 |
hgdp | rs397508055 |
ensembl | rs397508055 |
geneview | rs397508055 |
scholar | rs397508055 |
rs397508055 | |
pharmgkb | rs397508055 |
gwascentral | rs397508055 |
openSNP | rs397508055 |
23andMe | rs397508055 |
SNPshot | rs397508055 |
SNPdbe | rs397508055 |
MSV3d | rs397508055 |
GWAS Ctlg | rs397508055 |
Max Magnitude | 6 |
aka c.9498delT and also c.9498dupT; both are considered pathogenic for breast cancer in ClinVar
ClinVar | |
---|---|
Risk | rs397508055(-;-) |
Alt | rs397508055(-;-) |
Reference | Rs397508055(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32969067delT |
CLNSRC | ClinVar |
CLNACC | RCV000045833.2, RCV000257777.2, |