rs587781665
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs587781665(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32362572 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781665 |
dbSNP (classic) | rs587781665 |
ClinGen | rs587781665 |
ebi | rs587781665 |
HLI | rs587781665 |
Exac | rs587781665 |
Gnomad | rs587781665 |
Varsome | rs587781665 |
LitVar | rs587781665 |
Map | rs587781665 |
PheGenI | rs587781665 |
Biobank | rs587781665 |
1000 genomes | rs587781665 |
hgdp | rs587781665 |
ensembl | rs587781665 |
geneview | rs587781665 |
scholar | rs587781665 |
rs587781665 | |
pharmgkb | rs587781665 |
gwascentral | rs587781665 |
openSNP | rs587781665 |
23andMe | rs587781665 |
SNPshot | rs587781665 |
SNPdbe | rs587781665 |
MSV3d | rs587781665 |
GWAS Ctlg | rs587781665 |
Max Magnitude | 6 |
aka c.7855dupT (p.Trp2619Leufs)
ClinVar | |
---|---|
Risk | rs587781665(T;T) |
Alt | rs587781665(T;T) |
Reference | Rs587781665(-;-) |
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.32936709dupT |
CLNSRC | |
CLNACC | RCV000129816.2, RCV000241530.1, |