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rs587779093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs587779093(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47463131
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779093
dbSNP (classic)rs587779093
ClinGenrs587779093
ebirs587779093
HLIrs587779093
Exacrs587779093
Gnomadrs587779093
Varsomers587779093
LitVarrs587779093
Maprs587779093
PheGenIrs587779093
Biobankrs587779093
1000 genomesrs587779093
hgdprs587779093
ensemblrs587779093
geneviewrs587779093
scholarrs587779093
googlers587779093
pharmgkbrs587779093
gwascentralrs587779093
openSNPrs587779093
23andMers587779093
SNPshotrs587779093
SNPdbers587779093
MSV3drs587779093
GWAS Ctlgrs587779093
Max Magnitude6
ClinVar
Risk rs587779093(A;A) rs587779093(C;C)
Alt rs587779093(A;A) rs587779093(C;C)
Reference Rs587779093(T;T)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47690270T>A; NC_000002.11:g.47690270T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076174.2, RCV000458190.1,