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rs267608059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267608059(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47801050
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608059
dbSNP (classic)rs267608059
ClinGenrs267608059
ebirs267608059
HLIrs267608059
Exacrs267608059
Gnomadrs267608059
Varsomers267608059
LitVarrs267608059
Maprs267608059
PheGenIrs267608059
Biobankrs267608059
1000 genomesrs267608059
hgdprs267608059
ensemblrs267608059
geneviewrs267608059
scholarrs267608059
googlers267608059
pharmgkbrs267608059
gwascentralrs267608059
openSNPrs267608059
23andMers267608059
SNPshotrs267608059
SNPdbers267608059
MSV3drs267608059
GWAS Ctlgrs267608059
Max Magnitude6

c.3067G>T (p.Glu1023Ter)

23andMe name: i5046060


ClinVar
Risk rs267608059(T;T)
Alt rs267608059(T;T)
Reference Rs267608059(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48028189G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074801.2, RCV000491450.1,