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rs267608046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267608046(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47799460
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608046
dbSNP (classic)rs267608046
ClinGenrs267608046
ebirs267608046
HLIrs267608046
Exacrs267608046
Gnomadrs267608046
Varsomers267608046
LitVarrs267608046
Maprs267608046
PheGenIrs267608046
Biobankrs267608046
1000 genomesrs267608046
hgdprs267608046
ensemblrs267608046
geneviewrs267608046
scholarrs267608046
googlers267608046
pharmgkbrs267608046
gwascentralrs267608046
openSNPrs267608046
23andMers267608046
SNPshotrs267608046
SNPdbers267608046
MSV3drs267608046
GWAS Ctlgrs267608046
Max Magnitude6

c.1477G>T (p.Glu493Ter)

23andMe name: i5046093


ClinVar
Risk rs267608046(T;T)
Alt rs267608046(T;T)
Reference Rs267608046(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48026599G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074658.2,