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rs63751693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751693(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47445556
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751693
dbSNP (classic)rs63751693
ClinGenrs63751693
ebirs63751693
HLIrs63751693
Exacrs63751693
Gnomadrs63751693
Varsomers63751693
LitVarrs63751693
Maprs63751693
PheGenIrs63751693
Biobankrs63751693
1000 genomesrs63751693
hgdprs63751693
ensemblrs63751693
geneviewrs63751693
scholarrs63751693
googlers63751693
pharmgkbrs63751693
gwascentralrs63751693
openSNPrs63751693
23andMers63751693
SNPshotrs63751693
SNPdbers63751693
MSV3drs63751693
GWAS Ctlgrs63751693
Max Magnitude6
ClinVar
Risk rs63751693(T;T)
Alt rs63751693(T;T)
Reference Rs63751693(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.47672695C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076112.3, RCV000214917.1,