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rs267607694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
Make rs267607694(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47470970
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607694
dbSNP (old)rs267607694
ClinGenrs267607694
ebirs267607694
HLIrs267607694
Exacrs267607694
Gnomadrs267607694
Varsomers267607694
Maprs267607694
PheGenIrs267607694
Biobankrs267607694
1000 genomesrs267607694
hgdprs267607694
ensemblrs267607694
gopubmedrs267607694
geneviewrs267607694
scholarrs267607694
googlers267607694
pharmgkbrs267607694
gwascentralrs267607694
openSNPrs267607694
23andMers267607694
23andMe allrs267607694
SNPshotrs267607694
SNPdbers267607694
MSV3drs267607694
GWAS Ctlgrs267607694
Max Magnitude6
ClinVar
Risk rs267607694(A;A) Rs267607694(T;T)
Alt rs267607694(A;A) Rs267607694(T;T)
Reference Rs267607694(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47698109_47698110insA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076235.2,