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rs587779084

From SNPedia

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


Make rs587779084(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47445590
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779084
dbSNP (classic)rs587779084
ClinGenrs587779084
ebirs587779084
HLIrs587779084
Exacrs587779084
Gnomadrs587779084
Varsomers587779084
LitVarrs587779084
Maprs587779084
PheGenIrs587779084
Biobankrs587779084
1000 genomesrs587779084
hgdprs587779084
ensemblrs587779084
geneviewrs587779084
scholarrs587779084
googlers587779084
pharmgkbrs587779084
gwascentralrs587779084
openSNPrs587779084
23andMers587779084
SNPshotrs587779084
SNPdbers587779084
MSV3drs587779084
GWAS Ctlgrs587779084
Max Magnitude6
ClinVar
Risk rs587779084(C;C)
Alt rs587779084(C;C)
Reference Rs587779084(T;T)
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.47672729T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076121.2, RCV000491100.1,