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rs587782008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs587782008(-;-)
Make rs587782008(-;AGA)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28725084
GeneCHEK2
is asnp
is mentioned by
dbSNPrs587782008
dbSNP (classic)rs587782008
ClinGenrs587782008
ebirs587782008
HLIrs587782008
Exacrs587782008
Gnomadrs587782008
Varsomers587782008
LitVarrs587782008
Maprs587782008
PheGenIrs587782008
Biobankrs587782008
1000 genomesrs587782008
hgdprs587782008
ensemblrs587782008
geneviewrs587782008
scholarrs587782008
googlers587782008
pharmgkbrs587782008
gwascentralrs587782008
openSNPrs587782008
23andMers587782008
SNPshotrs587782008
SNPdbers587782008
MSV3drs587782008
GWAS Ctlgrs587782008
Max Magnitude0

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]

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,