rs483353119
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 rs483353119(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32355136 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs483353119 |
dbSNP (classic) | rs483353119 |
ClinGen | rs483353119 |
ebi | rs483353119 |
HLI | rs483353119 |
Exac | rs483353119 |
Gnomad | rs483353119 |
Varsome | rs483353119 |
LitVar | rs483353119 |
Map | rs483353119 |
PheGenI | rs483353119 |
Biobank | rs483353119 |
1000 genomes | rs483353119 |
hgdp | rs483353119 |
ensembl | rs483353119 |
geneview | rs483353119 |
scholar | rs483353119 |
rs483353119 | |
pharmgkb | rs483353119 |
gwascentral | rs483353119 |
openSNP | rs483353119 |
23andMe | rs483353119 |
SNPshot | rs483353119 |
SNPdbe | rs483353119 |
MSV3d | rs483353119 |
GWAS Ctlg | rs483353119 |
Max Magnitude | 6 |
aka c.7283delT
ClinVar | |
---|---|
Risk | rs483353119(-;-) |
Alt | rs483353119(-;-) |
Reference | Rs483353119(T;T) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32929273delT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000113742.2, |