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rs72552322

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552322(A;A)
Make rs72552322(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28725070
GeneCHEK2
is asnp
is mentioned by
dbSNPrs72552322
ebirs72552322
HLIrs72552322
Exacrs72552322
Varsomers72552322
Maprs72552322
PheGenIrs72552322
hapmaprs72552322
1000 genomesrs72552322
hgdprs72552322
ensemblrs72552322
gopubmedrs72552322
geneviewrs72552322
scholarrs72552322
googlers72552322
pharmgkbrs72552322
gwascentralrs72552322
openSNPrs72552322
23andMers72552322
23andMe allrs72552322
SNP Nexus

SNPshotrs72552322
SNPdbers72552322
MSV3drs72552322
GWAS Ctlgrs72552322
Max Magnitude0
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk rs72552322(A;A)
Alt rs72552322(A;A)
Reference rs72552322(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 1
HGVS NC_000022.10:g.29121058C>T
CLNSRC
CLNACC RCV000131700.5, RCV000200030.2, RCV000210071.1, RCV000212424.1,