Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799977
rs1799977
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE To elucidate the veritable relationship between three hMLH1 polymorphisms (rs1800734, rs1799977, rs63750447) and cancer risk, we performed this meta-analysis based on overall published data up to May 2017, from PubMed, Web of knowledge, VIP, WanFang and CNKI database, and the references of the original studies or review articles. 29190978

2017

dbSNP: rs1799977
rs1799977
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer. 27487738

2016

dbSNP: rs1799977
rs1799977
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE For the I219V polymorphism, however, there was no main effect associated with overall cancer risk in any genetic model. 22631669

2012

dbSNP: rs1799977
rs1799977
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect. 20149637

2010