rs587782008
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs587782008(-;-) |
Make rs587782008(-;AGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28725084 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782008 |
dbSNP (classic) | rs587782008 |
ClinGen | rs587782008 |
ebi | rs587782008 |
HLI | rs587782008 |
Exac | rs587782008 |
Gnomad | rs587782008 |
Varsome | rs587782008 |
LitVar | rs587782008 |
Map | rs587782008 |
PheGenI | rs587782008 |
Biobank | rs587782008 |
1000 genomes | rs587782008 |
hgdp | rs587782008 |
ensembl | rs587782008 |
geneview | rs587782008 |
scholar | rs587782008 |
rs587782008 | |
pharmgkb | rs587782008 |
gwascentral | rs587782008 |
openSNP | rs587782008 |
23andMe | rs587782008 |
SNPshot | rs587782008 |
SNPdbe | rs587782008 |
MSV3d | rs587782008 |
GWAS Ctlg | rs587782008 |
Max Magnitude | 0 |
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]
ClinVar | |
---|---|
Risk | rs587782008(-;-) |
Alt | rs587782008(-;-) |
Reference | Rs587782008(AGA;AGA) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer not provided Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000022.10:g.29121072_29121074delTCT |
CLNSRC | |
CLNACC | RCV000130429.7, RCV000198423.3, RCV000210175.1, RCV000212423.1, RCV000416789.1, |