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rs1799977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1799977(A;G)
Make rs1799977(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position37012077
GeneMLH1
is asnp
is mentioned by
dbSNPrs1799977
ebirs1799977
HLIrs1799977
Exacrs1799977
Varsomers1799977
Maprs1799977
PheGenIrs1799977
hapmaprs1799977
1000 genomesrs1799977
hgdprs1799977
ensemblrs1799977
gopubmedrs1799977
geneviewrs1799977
scholarrs1799977
googlers1799977
pharmgkbrs1799977
gwascentralrs1799977
openSNPrs1799977
23andMers1799977
23andMe allrs1799977
SNP Nexus

SNPshotrs1799977
SNPdbers1799977
MSV3drs1799977
GWAS Ctlgrs1799977
GMAF0.1717
Max Magnitude0
? (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 20056646OA-icon.png] 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,G;C,G)
Alt rs1799977(C,G;C,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 International Society for Gastrointestinal Hereditary Tumours Inc. HGMD
CLNACC RCV000075795.2, RCV000030230.3, RCV000034548.1, RCV000035355.9, RCV000131385.3, RCV000144603.1,



[PMID 17119116OA-icon.png] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.


[PMID 17267408OA-icon.png] 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 18523027OA-icon.png] Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.


[PMID 18701435OA-icon.png] 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 19029193OA-icon.png] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.


[PMID 19389263OA-icon.png] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.


[PMID 19781088OA-icon.png] Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.


[PMID 19930554OA-icon.png] 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 20805886OA-icon.png] 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 12624141OA-icon.png] 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.


GET Evidence
MLH1-I219V
aa_change Ile219Val
aa_change_short I219V
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.239822
summary Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.



[PMID 23755158OA-icon.png] 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