rs483353117
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs483353117(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32340453 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs483353117 |
dbSNP (classic) | rs483353117 |
ClinGen | rs483353117 |
ebi | rs483353117 |
HLI | rs483353117 |
Exac | rs483353117 |
Gnomad | rs483353117 |
Varsome | rs483353117 |
LitVar | rs483353117 |
Map | rs483353117 |
PheGenI | rs483353117 |
Biobank | rs483353117 |
1000 genomes | rs483353117 |
hgdp | rs483353117 |
ensembl | rs483353117 |
geneview | rs483353117 |
scholar | rs483353117 |
rs483353117 | |
pharmgkb | rs483353117 |
gwascentral | rs483353117 |
openSNP | rs483353117 |
23andMe | rs483353117 |
SNPshot | rs483353117 |
SNPdbe | rs483353117 |
MSV3d | rs483353117 |
GWAS Ctlg | rs483353117 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs483353117(T;T) |
Alt | rs483353117(T;T) |
Reference | Rs483353117(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32914590dupT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000113530.2, |