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rs267608084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267608084(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47803602
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608084
dbSNP (classic)rs267608084
ClinGenrs267608084
ebirs267608084
HLIrs267608084
Exacrs267608084
Gnomadrs267608084
Varsomers267608084
LitVarrs267608084
Maprs267608084
PheGenIrs267608084
Biobankrs267608084
1000 genomesrs267608084
hgdprs267608084
ensemblrs267608084
geneviewrs267608084
scholarrs267608084
googlers267608084
pharmgkbrs267608084
gwascentralrs267608084
openSNPrs267608084
23andMers267608084
SNPshotrs267608084
SNPdbers267608084
MSV3drs267608084
GWAS Ctlgrs267608084
Max Magnitude6

c.3355G>T (p.Glu1119Ter)

23andMe name: i5046092

ClinVar
Risk rs267608084(A;A) rs267608084(T;T)
Alt rs267608084(A;A) rs267608084(T;T)
Reference Rs267608084(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH6
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48030741G>A; NC_000002.11:g.48030741G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000491737.1, RCV000074842.2,