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rs63749830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749830(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480812
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749830
dbSNP (classic)rs63749830
ClinGenrs63749830
ebirs63749830
HLIrs63749830
Exacrs63749830
Gnomadrs63749830
Varsomers63749830
LitVarrs63749830
Maprs63749830
PheGenIrs63749830
Biobankrs63749830
1000 genomesrs63749830
hgdprs63749830
ensemblrs63749830
geneviewrs63749830
scholarrs63749830
googlers63749830
pharmgkbrs63749830
gwascentralrs63749830
openSNPrs63749830
23andMers63749830
SNPshotrs63749830
SNPdbers63749830
MSV3drs63749830
GWAS Ctlgrs63749830
Max Magnitude6
ClinVar
Risk rs63749830(A;A) rs63749830(T;T)
Alt rs63749830(A;A) rs63749830(T;T)
Reference Rs63749830(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47707951G>A; NC_000002.11:g.47707951G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000122986.1, RCV000076506.2,