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rs587779139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs587779139(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47476513
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779139
dbSNP (classic)rs587779139
ClinGenrs587779139
ebirs587779139
HLIrs587779139
Exacrs587779139
Gnomadrs587779139
Varsomers587779139
LitVarrs587779139
Maprs587779139
PheGenIrs587779139
Biobankrs587779139
1000 genomesrs587779139
hgdprs587779139
ensemblrs587779139
geneviewrs587779139
scholarrs587779139
googlers587779139
pharmgkbrs587779139
gwascentralrs587779139
openSNPrs587779139
23andMers587779139
SNPshotrs587779139
SNPdbers587779139
MSV3drs587779139
GWAS Ctlgrs587779139
Max Magnitude6

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560OA-icon.png]

ClinVar
Risk rs587779139(T;T)
Alt rs587779139(T;T)
Reference Rs587779139(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47703652C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076411.2, RCV000214955.2,