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rs141568342

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141568342(C;T)
Make rs141568342(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28734532
GeneCHEK2
is asnp
is mentioned by
dbSNPrs141568342
ebirs141568342
HLIrs141568342
Exacrs141568342
Varsomers141568342
Maprs141568342
PheGenIrs141568342
hapmaprs141568342
1000 genomesrs141568342
hgdprs141568342
ensemblrs141568342
gopubmedrs141568342
geneviewrs141568342
scholarrs141568342
googlers141568342
pharmgkbrs141568342
gwascentralrs141568342
openSNPrs141568342
23andMers141568342
23andMe allrs141568342
SNP Nexus

SNPshotrs141568342
SNPdbers141568342
MSV3drs141568342
GWAS Ctlgrs141568342
Max Magnitude0
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk rs141568342(T;T)
Alt rs141568342(T;T)
Reference rs141568342(C;C)
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.29130520C>T
CLNSRC
CLNACC RCV000116009.6, RCV000199067.2, RCV000210191.1, RCV000212407.1,