rs587776468
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs587776468(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32340399 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776468 |
dbSNP (classic) | rs587776468 |
ClinGen | rs587776468 |
ebi | rs587776468 |
HLI | rs587776468 |
Exac | rs587776468 |
Gnomad | rs587776468 |
Varsome | rs587776468 |
LitVar | rs587776468 |
Map | rs587776468 |
PheGenI | rs587776468 |
Biobank | rs587776468 |
1000 genomes | rs587776468 |
hgdp | rs587776468 |
ensembl | rs587776468 |
geneview | rs587776468 |
scholar | rs587776468 |
rs587776468 | |
pharmgkb | rs587776468 |
gwascentral | rs587776468 |
openSNP | rs587776468 |
23andMe | rs587776468 |
SNPshot | rs587776468 |
SNPdbe | rs587776468 |
MSV3d | rs587776468 |
GWAS Ctlg | rs587776468 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587776468(A;A) rs587776468(C;C) |
Alt | rs587776468(A;A) rs587776468(C;C) |
Reference | Rs587776468(T;T) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32914536T>A; NC_000013.10:g.32914536T>C |
CLNSRC | ClinVar |
CLNACC | RCV000144189.2, RCV000222461.1, RCV000469766.1, |