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rs63749984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749984(C;C)
Make rs63749984(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410340
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749984
dbSNP (classic)rs63749984
ClinGenrs63749984
ebirs63749984
HLIrs63749984
Exacrs63749984
Gnomadrs63749984
Varsomers63749984
LitVarrs63749984
Maprs63749984
PheGenIrs63749984
Biobankrs63749984
1000 genomesrs63749984
hgdprs63749984
ensemblrs63749984
geneviewrs63749984
scholarrs63749984
googlers63749984
pharmgkbrs63749984
gwascentralrs63749984
openSNPrs63749984
23andMers63749984
SNPshotrs63749984
SNPdbers63749984
MSV3drs63749984
GWAS Ctlgrs63749984
Max Magnitude6
ClinVar
Risk rs63749984(C;C) rs63749984(T;T)
Alt rs63749984(C;C) rs63749984(T;T)
Reference Rs63749984(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47637479G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076654.2,