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rs63751426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Likely miscall in 23andMe v4 chip data; otherwise, Lynch syndrome, pathogenic mutation
Make rs63751426(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410205
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751426
dbSNP (classic)rs63751426
ClinGenrs63751426
ebirs63751426
HLIrs63751426
Exacrs63751426
Gnomadrs63751426
Varsomers63751426
LitVarrs63751426
Maprs63751426
PheGenIrs63751426
Biobankrs63751426
1000 genomesrs63751426
hgdprs63751426
ensemblrs63751426
geneviewrs63751426
scholarrs63751426
googlers63751426
pharmgkbrs63751426
gwascentralrs63751426
openSNPrs63751426
23andMers63751426
SNPshotrs63751426
SNPdbers63751426
MSV3drs63751426
GWAS Ctlgrs63751426
Max Magnitude6

aka c.478C>T, p.Gln160Ter, Q160X

ClinVar
Risk rs63751426(T;T)
Alt rs63751426(T;T)
Reference Rs63751426(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47637344C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076606.2,