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rs63751640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751640(A;A)
Make rs63751640(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position47476367
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751640
dbSNP (classic)rs63751640
ClinGenrs63751640
ebirs63751640
HLIrs63751640
Exacrs63751640
Gnomadrs63751640
Varsomers63751640
LitVarrs63751640
Maprs63751640
PheGenIrs63751640
Biobankrs63751640
1000 genomesrs63751640
hgdprs63751640
ensemblrs63751640
geneviewrs63751640
scholarrs63751640
googlers63751640
pharmgkbrs63751640
gwascentralrs63751640
openSNPrs63751640
23andMers63751640
SNPshotrs63751640
SNPdbers63751640
MSV3drs63751640
GWAS Ctlgrs63751640
Max Magnitude6
ClinVar
Risk rs63751640(A;A) rs63751640(C;C) rs63751640(T;T)
Alt rs63751640(A;A) rs63751640(C;C) rs63751640(T;T)
Reference Rs63751640(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.47703506G>A; NC_000002.11:g.47703506G>C; NC_000002.11:g.47703506G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076354.2, RCV000076355.2, RCV000076356.2, RCV000491447.1,