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rs267607789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs267607789(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37014545
GeneMLH1
is asnp
is mentioned by
dbSNPrs267607789
dbSNP (classic)rs267607789
ClinGenrs267607789
ebirs267607789
HLIrs267607789
Exacrs267607789
Gnomadrs267607789
Varsomers267607789
LitVarrs267607789
Maprs267607789
PheGenIrs267607789
Biobankrs267607789
1000 genomesrs267607789
hgdprs267607789
ensemblrs267607789
geneviewrs267607789
scholarrs267607789
googlers267607789
pharmgkbrs267607789
gwascentralrs267607789
openSNPrs267607789
23andMers267607789
SNPshotrs267607789
SNPdbers267607789
MSV3drs267607789
GWAS Ctlgrs267607789
Max Magnitude6
ClinVar
Risk rs267607789(A;A) rs267607789(G;G) rs267607789(T;T)
Alt rs267607789(A;A) rs267607789(G;G) rs267607789(T;T)
Reference Rs267607789(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000003.11:g.37056036G>A; NC_000003.11:g.37056036G>C; NC_000003.11:g.37056036G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075847.2, RCV000214767.1, RCV000075848.2, RCV000129379.2,