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rs267608055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6 Lynch syndrome, pathogenic mutation
(G;T) 6 Lynch syndrome
(T;T) 0 common in clinvar


Make rs267608055(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47799282
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608055
dbSNP (classic)rs267608055
ClinGenrs267608055
ebirs267608055
HLIrs267608055
Exacrs267608055
Gnomadrs267608055
Varsomers267608055
LitVarrs267608055
Maprs267608055
PheGenIrs267608055
Biobankrs267608055
1000 genomesrs267608055
hgdprs267608055
ensemblrs267608055
geneviewrs267608055
scholarrs267608055
googlers267608055
pharmgkbrs267608055
gwascentralrs267608055
openSNPrs267608055
23andMers267608055
SNPshotrs267608055
SNPdbers267608055
MSV3drs267608055
GWAS Ctlgrs267608055
Max Magnitude6

c.1299T>A (p.Tyr433Ter)

23andMe name: i5046109


ClinVar
Risk rs267608055(A;A) rs267608055(G;G)
Alt rs267608055(A;A) rs267608055(G;G)
Reference Rs267608055(T;T)
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.48026421T>A; NC_000002.11:g.48026421T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074647.2, RCV000491745.1,