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rs587779190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs587779190(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47414344
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779190
dbSNP (classic)rs587779190
ClinGenrs587779190
ebirs587779190
HLIrs587779190
Exacrs587779190
Gnomadrs587779190
Varsomers587779190
LitVarrs587779190
Maprs587779190
PheGenIrs587779190
Biobankrs587779190
1000 genomesrs587779190
hgdprs587779190
ensemblrs587779190
geneviewrs587779190
scholarrs587779190
googlers587779190
pharmgkbrs587779190
gwascentralrs587779190
openSNPrs587779190
23andMers587779190
SNPshotrs587779190
SNPdbers587779190
MSV3drs587779190
GWAS Ctlgrs587779190
Max Magnitude6
ClinVar
Risk rs587779190(T;T)
Alt rs587779190(T;T)
Reference Rs587779190(G;G)
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.47641483G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076740.2, RCV000165329.1,