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rs63749947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749947(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47463091
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749947
dbSNP (classic)rs63749947
ClinGenrs63749947
ebirs63749947
HLIrs63749947
Exacrs63749947
Gnomadrs63749947
Varsomers63749947
LitVarrs63749947
Maprs63749947
PheGenIrs63749947
Biobankrs63749947
1000 genomesrs63749947
hgdprs63749947
ensemblrs63749947
geneviewrs63749947
scholarrs63749947
googlers63749947
pharmgkbrs63749947
gwascentralrs63749947
openSNPrs63749947
23andMers63749947
SNPshotrs63749947
SNPdbers63749947
MSV3drs63749947
GWAS Ctlgrs63749947
Max Magnitude6
ClinVar
Risk rs63749947(T;T)
Alt rs63749947(T;T)
Reference Rs63749947(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47690230G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076164.2,