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rs267607706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 Lynch syndrome
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
Make rs267607706(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993661
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs267607706
dbSNP (classic)rs267607706
ClinGenrs267607706
ebirs267607706
HLIrs267607706
Exacrs267607706
Gnomadrs267607706
Varsomers267607706
LitVarrs267607706
Maprs267607706
PheGenIrs267607706
Biobankrs267607706
1000 genomesrs267607706
hgdprs267607706
ensemblrs267607706
geneviewrs267607706
scholarrs267607706
googlers267607706
pharmgkbrs267607706
gwascentralrs267607706
openSNPrs267607706
23andMers267607706
SNPshotrs267607706
SNPdbers267607706
MSV3drs267607706
GWAS Ctlgrs267607706
Max Magnitude6
ClinVar
Risk rs267607706(G;G) rs267607706(T;T)
Alt rs267607706(G;G) rs267607706(T;T)
Reference Rs267607706(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035152C>G; NC_000003.11:g.37035152C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075121.2, RCV000473225.1,