rs876659435
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs876659435(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32394845 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs876659435 |
dbSNP (classic) | rs876659435 |
ClinGen | rs876659435 |
ebi | rs876659435 |
HLI | rs876659435 |
Exac | rs876659435 |
Gnomad | rs876659435 |
Varsome | rs876659435 |
LitVar | rs876659435 |
Map | rs876659435 |
PheGenI | rs876659435 |
Biobank | rs876659435 |
1000 genomes | rs876659435 |
hgdp | rs876659435 |
ensembl | rs876659435 |
geneview | rs876659435 |
scholar | rs876659435 |
rs876659435 | |
pharmgkb | rs876659435 |
gwascentral | rs876659435 |
openSNP | rs876659435 |
23andMe | rs876659435 |
SNPshot | rs876659435 |
SNPdbe | rs876659435 |
MSV3d | rs876659435 |
GWAS Ctlg | rs876659435 |
Max Magnitude | 6 |
aka c.9413dupT (p.Leu3138Phefs)
ClinVar | |
---|---|
Risk | rs876659435(T;T) |
Alt | rs876659435(T;T) |
Reference | Rs876659435(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32968982dupT |
CLNSRC | |
CLNACC | RCV000213864.1, RCV000257499.2, |