rs431825312
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 rs431825312(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338134 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs431825312 |
dbSNP (classic) | rs431825312 |
ClinGen | rs431825312 |
ebi | rs431825312 |
HLI | rs431825312 |
Exac | rs431825312 |
Gnomad | rs431825312 |
Varsome | rs431825312 |
LitVar | rs431825312 |
Map | rs431825312 |
PheGenI | rs431825312 |
Biobank | rs431825312 |
1000 genomes | rs431825312 |
hgdp | rs431825312 |
ensembl | rs431825312 |
geneview | rs431825312 |
scholar | rs431825312 |
rs431825312 | |
pharmgkb | rs431825312 |
gwascentral | rs431825312 |
openSNP | rs431825312 |
23andMe | rs431825312 |
SNPshot | rs431825312 |
SNPdbe | rs431825312 |
MSV3d | rs431825312 |
GWAS Ctlg | rs431825312 |
Merged from | Rs587780651 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs431825312(-;-) |
Alt | rs431825312(-;-) |
Reference | Rs431825312(T;T) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32912271delT |
CLNSRC | ClinVar |
CLNACC | RCV000082919.4, RCV000122909.1, |