{{Rsnum
|rsid=1800734
|Gene=MLH1
|Chromosome=3
|position=36993455
|Orientation=plus
|GMAF=0.3145
|Gene_s=EPM2AIP1,MLH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.4 | 31.9 | 63.7
| HCB | 31.1 | 42.2 | 26.7
| JPT | 30.4 | 44.6 | 25.0
| YRI | 2.8 | 31.2 | 66.0
| ASW | 3.5 | 29.8 | 66.7
| CHB | 31.1 | 42.2 | 26.7
| CHD | 30.3 | 51.4 | 18.3
| GIH | 14.0 | 45.0 | 41.0
| LWK | 1.9 | 22.6 | 75.5
| MEX | 10.3 | 44.8 | 44.8
| MKK | 2.6 | 30.3 | 67.1
| TSI | 4.0 | 48.0 | 48.0
| HapMapRevision=28
}}

{{PMID|18712731}} [[colorectal cancer]] (-93G>A, rs1800734) 1,518 patients with CRC, homozygosity for the MLH1 -93A variant was associated with a significantly increased 3-fold risk of CRC negative for MLH1 protein by immunohistochemistry (odds ratio (OR): AA vs GG = 3.30, 95% CI 1.46-7.47, n = 1392, p = 0.004, MLH1 negative vs MLH1 positive CRC) and with a 68% excess of proximal CRC (OR: AA vs GG=1.68, 95% confidence interval (CI) 1.00-2.83, n = 1,518, p = 0.05, proximal vs distal CRC)

{{omim
|id=120436
|desc=MutL, E. COLI, HOMOLOG OF, 1; MLH1
|rsnum=1800734
}}

{{PharmGKB
|RSID=rs1800734
|Name_s=MLH1 -93
|Gene_s=EPM2AIP1, MLH1
|Feature=
|Evidence=PubMed ID:17959715
|Annotation=This promoter variant is a risk allele for the development of cancer after methylating chemotherapy for Hodgkin lymphoma.
|Drugs=dacarbazine; procarbazine
|Drug Classes=
|Diseases=therapy-related acute myeloid leukemia (t-ML)
|Curation Level=Curated
|PharmGKB Accession ID=PA161615747
}}

{{PMID Auto
|PMID=21093954
|Title=Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers
}}

{{omim
|id=120436
|rsnum=1800734
|variant=0026
}}

{{PMID Auto
|PMID=20967208
|Title=Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer
|OA=1
}}

{{PMID Auto
|PMID=21565826
|Title=MLH1-93G&gt;A is a risk factor for MSI colorectal cancer
}}

{{PMID Auto
|PMID=17230510
|Title=Evidence for heritable predisposition to epigenetic silencing of MLH1.
}}

{{PMID Auto
|PMID=18523027
|Title=Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.
|OA=1
}}

{{PMID Auto
|PMID=19930554
|Title=Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
|OA=1
}}

{{PMID Auto
|PMID=20860725
|Title=MLH1 Differential allelic expression in mutation carriers and controls.
}}

{{PMID Auto
|PMID=22294770
|Title=Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.
}}

{{PMID Auto
|PMID=22371642
|Title=Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800734
|overall_frequency_n=30
|overall_frequency_d=128
|overall_frequency=0.234375
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=27
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24325908
|Title=Analysis of dna repair gene polymorphisms in glioblastoma
}}

{{PMID Auto
|PMID=25252909
|Title=Mismatch Repair Gene Polymorphisms and Association with Lung Cancer Development
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | Illumina Human 1M}}