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rs267607853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 Lynch syndrome, pathogenic mutation
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs267607853(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37042332
GeneMLH1
is asnp
is mentioned by
dbSNPrs267607853
dbSNP (classic)rs267607853
ClinGenrs267607853
ebirs267607853
HLIrs267607853
Exacrs267607853
Gnomadrs267607853
Varsomers267607853
LitVarrs267607853
Maprs267607853
PheGenIrs267607853
Biobankrs267607853
1000 genomesrs267607853
hgdprs267607853
ensemblrs267607853
geneviewrs267607853
scholarrs267607853
googlers267607853
pharmgkbrs267607853
gwascentralrs267607853
openSNPrs267607853
23andMers267607853
SNPshotrs267607853
SNPdbers267607853
MSV3drs267607853
GWAS Ctlgrs267607853
Max Magnitude6
ClinVar
Risk rs267607853(A;A) rs267607853(G;G) rs267607853(T;T)
Alt rs267607853(A;A) rs267607853(G;G) rs267607853(T;T)
Reference Rs267607853(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000003.11:g.37083823G>A; NC_000003.11:g.37083823G>C; NC_000003.11:g.37083823G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075322.2, RCV000075323.2, RCV000075324.2,