rs1800734
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1800734(A;A) |
| Make rs1800734(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 36993455 |
| Gene | EPM2AIP1, MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800734 |
| dbSNP (classic) | rs1800734 |
| ClinGen | rs1800734 |
| ebi | rs1800734 |
| HLI | rs1800734 |
| Exac | rs1800734 |
| Gnomad | rs1800734 |
| Varsome | rs1800734 |
| LitVar | rs1800734 |
| Map | rs1800734 |
| PheGenI | rs1800734 |
| Biobank | rs1800734 |
| 1000 genomes | rs1800734 |
| hgdp | rs1800734 |
| ensembl | rs1800734 |
| geneview | rs1800734 |
| scholar | rs1800734 |
| rs1800734 | |
| pharmgkb | rs1800734 |
| gwascentral | rs1800734 |
| openSNP | rs1800734 |
| 23andMe | rs1800734 |
| SNPshot | rs1800734 |
| SNPdbe | rs1800734 |
| MSV3d | rs1800734 |
| GWAS Ctlg | rs1800734 |
| GMAF | 0.3145 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 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)
[PMID 21093954] Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers
[PMID 20967208
] Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer
[PMID 21565826] MLH1-93G>A is a risk factor for MSI colorectal cancer
[PMID 17230510] Evidence for heritable predisposition to epigenetic silencing of MLH1.
[PMID 18523027] Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.
[PMID 19930554] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
[PMID 20860725] MLH1 Differential allelic expression in mutation carriers and controls.
[PMID 22294770] Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.
[PMID 22371642] Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.
[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma
[PMID 25252909] Mismatch Repair Gene Polymorphisms and Association with Lung Cancer Development
| ClinVar | |
|---|---|
| Risk | rs1800734(A;A) |
| Alt | rs1800734(A;A) |
| Reference | Rs1800734(G;G) |
| Significance | Non-pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
| Variation | info |
| Gene | EPM2AIP1 MLH1 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37034946G>A |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000075069.3, RCV000215209.1, RCV000250465.1, |
[PMID 25804231] Polymorphism of DNA mismatch repair genes in endometrial cancer
[PMID 25986311] Association between MutL homolog 1 polymorphisms and the risk of colorectal cancer: a meta-analysis
[PMID 25252713] Factors modifying the risk for developing acute skin toxicity after whole-breast intensity modulated radiotherapy
[PMID 28445130] Single nucleotide polymorphisms in MLH1 predict poor prognosis of hepatocellular carcinoma in a Chinese population.
[PMID 29108386] Single nucleotide polymorphisms in MLH1 predict poor prognosis of hepatocellular carcinoma in a Chinese population.
[PMID 29181059] Polymorphism of MSH2 Gly322Asp and MLH1 -93G>A in non-familial colon cancer - a case-controlled study.
[PMID 31035658] Polymorphisms of Mismatch Repair Pathway Genes Predict Clinical Outcomes in Oral Squamous Cell Carcinoma Patients Receiving Adjuvant Concurrent Chemoradiotherapy.
