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rs63749854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749854(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478336
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749854
dbSNP (classic)rs63749854
ClinGenrs63749854
ebirs63749854
HLIrs63749854
Exacrs63749854
Gnomadrs63749854
Varsomers63749854
LitVarrs63749854
Maprs63749854
PheGenIrs63749854
Biobankrs63749854
1000 genomesrs63749854
hgdprs63749854
ensemblrs63749854
geneviewrs63749854
scholarrs63749854
googlers63749854
pharmgkbrs63749854
gwascentralrs63749854
openSNPrs63749854
23andMers63749854
SNPshotrs63749854
SNPdbers63749854
MSV3drs63749854
GWAS Ctlgrs63749854
Max Magnitude6
ClinVar
Risk rs63749854(T;T)
Alt rs63749854(T;T)
Reference Rs63749854(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.47705475G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076448.2, RCV000223378.1,