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rs142763740

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142763740(A;A)
Make rs142763740(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28694066
GeneCHEK2
is asnp
is mentioned by
dbSNPrs142763740
ebirs142763740
HLIrs142763740
Exacrs142763740
Varsomers142763740
Maprs142763740
PheGenIrs142763740
hapmaprs142763740
1000 genomesrs142763740
hgdprs142763740
ensemblrs142763740
gopubmedrs142763740
geneviewrs142763740
scholarrs142763740
googlers142763740
pharmgkbrs142763740
gwascentralrs142763740
openSNPrs142763740
23andMers142763740
23andMe allrs142763740
SNP Nexus

SNPshotrs142763740
SNPdbers142763740
MSV3drs142763740
GWAS Ctlgrs142763740
Max Magnitude0
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk rs142763740(A;A)
Alt rs142763740(A;A)
Reference rs142763740(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer not provided
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided
Reversed 0
HGVS NC_000022.10:g.29090054G>A
CLNSRC
CLNACC RCV000116001.6, RCV000198554.3, RCV000210077.1, RCV000212465.2,