rs587782611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs587782611(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32332925 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782611 |
dbSNP (classic) | rs587782611 |
ClinGen | rs587782611 |
ebi | rs587782611 |
HLI | rs587782611 |
Exac | rs587782611 |
Gnomad | rs587782611 |
Varsome | rs587782611 |
LitVar | rs587782611 |
Map | rs587782611 |
PheGenI | rs587782611 |
Biobank | rs587782611 |
1000 genomes | rs587782611 |
hgdp | rs587782611 |
ensembl | rs587782611 |
geneview | rs587782611 |
scholar | rs587782611 |
rs587782611 | |
pharmgkb | rs587782611 |
gwascentral | rs587782611 |
openSNP | rs587782611 |
23andMe | rs587782611 |
SNPshot | rs587782611 |
SNPdbe | rs587782611 |
MSV3d | rs587782611 |
GWAS Ctlg | rs587782611 |
Max Magnitude | 6 |
aka c.1447dupG (p.Ala483Glyfs)
ClinVar | |
---|---|
Risk | rs587782611(G;G) |
Alt | rs587782611(G;G) |
Reference | Rs587782611(-;-) |
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.32907062dupG |
CLNSRC | |
CLNACC | RCV000131985.2, RCV000241050.1, |