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rs63751298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Likely miscall in Ancestry v2c data; otherwise, Lynch syndrome, pathogenic mutation
Make rs63751298(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47471023
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751298
dbSNP (classic)rs63751298
ClinGenrs63751298
ebirs63751298
HLIrs63751298
Exacrs63751298
Gnomadrs63751298
Varsomers63751298
LitVarrs63751298
Maprs63751298
PheGenIrs63751298
Biobankrs63751298
1000 genomesrs63751298
hgdprs63751298
ensemblrs63751298
geneviewrs63751298
scholarrs63751298
googlers63751298
pharmgkbrs63751298
gwascentralrs63751298
openSNPrs63751298
23andMers63751298
SNPshotrs63751298
SNPdbers63751298
MSV3drs63751298
GWAS Ctlgrs63751298
Max Magnitude6

aka c.1720C>T (p.Gln574Ter)


ClinVar
Risk rs63751298(T;T)
Alt rs63751298(T;T)
Reference Rs63751298(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47698162C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076257.2,