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rs63749827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749827(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993623
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs63749827
dbSNP (classic)rs63749827
ClinGenrs63749827
ebirs63749827
HLIrs63749827
Exacrs63749827
Gnomadrs63749827
Varsomers63749827
LitVarrs63749827
Maprs63749827
PheGenIrs63749827
Biobankrs63749827
1000 genomesrs63749827
hgdprs63749827
ensemblrs63749827
geneviewrs63749827
scholarrs63749827
googlers63749827
pharmgkbrs63749827
gwascentralrs63749827
openSNPrs63749827
23andMers63749827
SNPshotrs63749827
SNPdbers63749827
MSV3drs63749827
GWAS Ctlgrs63749827
Max Magnitude6
ClinVar
Risk rs63749827(T;T)
Alt rs63749827(T;T)
Reference Rs63749827(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035114C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075838.2,