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rs63749838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749838(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993620
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs63749838
dbSNP (classic)rs63749838
ClinGenrs63749838
ebirs63749838
HLIrs63749838
Exacrs63749838
Gnomadrs63749838
Varsomers63749838
LitVarrs63749838
Maprs63749838
PheGenIrs63749838
Biobankrs63749838
1000 genomesrs63749838
hgdprs63749838
ensemblrs63749838
geneviewrs63749838
scholarrs63749838
googlers63749838
pharmgkbrs63749838
gwascentralrs63749838
openSNPrs63749838
23andMers63749838
SNPshotrs63749838
SNPdbers63749838
MSV3drs63749838
GWAS Ctlgrs63749838
Max Magnitude6
ClinVar
Risk rs63749838(G;G) rs63749838(T;T)
Alt rs63749838(G;G) rs63749838(T;T)
Reference Rs63749838(A;A)
Significance Probable-Pathogenic
Disease not specified Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN not specified Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035111A>G; NC_000003.11:g.37035111A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000481596.1, RCV000075834.2,