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rs63751131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63751131(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993591
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs63751131
dbSNP (classic)rs63751131
ClinGenrs63751131
ebirs63751131
HLIrs63751131
Exacrs63751131
Gnomadrs63751131
Varsomers63751131
LitVarrs63751131
Maprs63751131
PheGenIrs63751131
Biobankrs63751131
1000 genomesrs63751131
hgdprs63751131
ensemblrs63751131
geneviewrs63751131
scholarrs63751131
googlers63751131
pharmgkbrs63751131
gwascentralrs63751131
openSNPrs63751131
23andMers63751131
SNPshotrs63751131
SNPdbers63751131
MSV3drs63751131
GWAS Ctlgrs63751131
Max Magnitude6
ClinVar
Risk rs63751131(T;T)
Alt rs63751131(T;T)
Reference Rs63751131(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035082dupT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075710.2,