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rs63749859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs63749859(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position37000976
GeneMLH1
is asnp
is mentioned by
dbSNPrs63749859
dbSNP (classic)rs63749859
ClinGenrs63749859
ebirs63749859
HLIrs63749859
Exacrs63749859
Gnomadrs63749859
Varsomers63749859
LitVarrs63749859
Maprs63749859
PheGenIrs63749859
Biobankrs63749859
1000 genomesrs63749859
hgdprs63749859
ensemblrs63749859
geneviewrs63749859
scholarrs63749859
googlers63749859
pharmgkbrs63749859
gwascentralrs63749859
openSNPrs63749859
23andMers63749859
SNPshotrs63749859
SNPdbers63749859
MSV3drs63749859
GWAS Ctlgrs63749859
Max Magnitude6

aka c.229T>C, p.Cys77Arg or C77R


ClinVar
Risk rs63749859(C;C)
Alt rs63749859(C;C)
Reference Rs63749859(T;T)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.37042467T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000075596.2, RCV000220766.1,