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rs267607979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267607979(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478271
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607979
dbSNP (classic)rs267607979
ClinGenrs267607979
ebirs267607979
HLIrs267607979
Exacrs267607979
Gnomadrs267607979
Varsomers267607979
LitVarrs267607979
Maprs267607979
PheGenIrs267607979
Biobankrs267607979
1000 genomesrs267607979
hgdprs267607979
ensemblrs267607979
geneviewrs267607979
scholarrs267607979
googlers267607979
pharmgkbrs267607979
gwascentralrs267607979
openSNPrs267607979
23andMers267607979
SNPshotrs267607979
SNPdbers267607979
MSV3drs267607979
GWAS Ctlgrs267607979
Max Magnitude6
ClinVar
Risk rs267607979(T;T)
Alt rs267607979(T;T)
Reference Rs267607979(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47705410G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076430.2, RCV000490951.1,