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rs267607954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267607954(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47445625
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607954
dbSNP (classic)rs267607954
ClinGenrs267607954
ebirs267607954
HLIrs267607954
Exacrs267607954
Gnomadrs267607954
Varsomers267607954
LitVarrs267607954
Maprs267607954
PheGenIrs267607954
Biobankrs267607954
1000 genomesrs267607954
hgdprs267607954
ensemblrs267607954
geneviewrs267607954
scholarrs267607954
googlers267607954
pharmgkbrs267607954
gwascentralrs267607954
openSNPrs267607954
23andMers267607954
SNPshotrs267607954
SNPdbers267607954
MSV3drs267607954
GWAS Ctlgrs267607954
Max Magnitude6
ClinVar
Risk rs267607954(A;A) rs267607954(T;T)
Alt rs267607954(A;A) rs267607954(T;T)
Reference Rs267607954(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47672764G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076132.2,