rs1799977
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1799977(A;G) |
| Make rs1799977(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 37012077 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799977 |
| dbSNP (classic) | rs1799977 |
| ClinGen | rs1799977 |
| ebi | rs1799977 |
| HLI | rs1799977 |
| Exac | rs1799977 |
| Gnomad | rs1799977 |
| Varsome | rs1799977 |
| LitVar | rs1799977 |
| Map | rs1799977 |
| PheGenI | rs1799977 |
| Biobank | rs1799977 |
| 1000 genomes | rs1799977 |
| hgdp | rs1799977 |
| ensembl | rs1799977 |
| geneview | rs1799977 |
| scholar | rs1799977 |
| rs1799977 | |
| pharmgkb | rs1799977 |
| gwascentral | rs1799977 |
| openSNP | rs1799977 |
| 23andMe | rs1799977 |
| SNPshot | rs1799977 |
| SNPdbe | rs1799977 |
| MSV3d | rs1799977 |
| GWAS Ctlg | rs1799977 |
| GMAF | 0.1717 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19665066] A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer
[PMID 20056646
] Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes
[PMID 20149637] Common variants in human CRC genes as low-risk alleles
| ClinVar | |
|---|---|
| Risk | rs1799977(C;C) rs1799977(G;G) |
| Alt | rs1799977(C;C) rs1799977(G;G) |
| Reference | Rs1799977(A;A) |
| Significance | Non-pathogenic |
| Disease | Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37053568A>C; NC_000003.11:g.37053568A>G |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000075795.2, RCV000030230.4, RCV000034548.1, RCV000035355.10, RCV000131385.3, RCV000144603.1, |
[PMID 17119116] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17870204] Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.
[PMID 18523027] Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18723338] Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19389263] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
[PMID 19781088] Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.
[PMID 19930554] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
[PMID 20063070] Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.
[PMID 20805886] Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
[PMID 20860725] MLH1 Differential allelic expression in mutation carriers and controls.
[PMID 21156845] The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
[PMID 12624141] Cancer risk in 348 French MSH2 or MLH1 gene carriers.
[PMID 17374836] MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
[PMID 19203531] Modulation of the efficacy of temozolomide and dacarbazine melanoma treatment by DNA-repair factors in vivo and in vitro.
[PMID 23755158] Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility
[PMID 25986311] Association between MutL homolog 1 polymorphisms and the risk of colorectal cancer: a meta-analysis
[PMID 26103898] Allele Quantification Pyrosequencing(®) at Designated SNP Sites to Detect Allelic Expression Imbalance and Loss-of-Heterozygosity
[PMID 29616133] Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.
