rs587782880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCAG;CCAG) | 0 | common in clinvar |
(CCAG;T) | 5 | Likely pathogenic for breast cancer according to ClinVar |
Make rs587782880(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32326238 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782880 |
dbSNP (classic) | rs587782880 |
ClinGen | rs587782880 |
ebi | rs587782880 |
HLI | rs587782880 |
Exac | rs587782880 |
Gnomad | rs587782880 |
Varsome | rs587782880 |
LitVar | rs587782880 |
Map | rs587782880 |
PheGenI | rs587782880 |
Biobank | rs587782880 |
1000 genomes | rs587782880 |
hgdp | rs587782880 |
ensembl | rs587782880 |
geneview | rs587782880 |
scholar | rs587782880 |
rs587782880 | |
pharmgkb | rs587782880 |
gwascentral | rs587782880 |
openSNP | rs587782880 |
23andMe | rs587782880 |
SNPshot | rs587782880 |
SNPdbe | rs587782880 |
MSV3d | rs587782880 |
GWAS Ctlg | rs587782880 |
Max Magnitude | 5 |
aka c.476-4_476-1delCCAGinsT
ClinVar | |
---|---|
Risk | rs587782880(T;T) |
Alt | rs587782880(T;T) |
Reference | Rs587782880(CCAG;CCAG) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32900375_32900378delCCAGinsT |
CLNSRC | |
CLNACC | RCV000132515.3, RCV000416551.1, |