Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6547741
rs6547741
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.710 GeneticVariation BEFREE Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). 27749845

2016

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Subgroup analysis by ethnicity suggested that there was an obvious association between XRCC1 Arg194Trp polymorphism and ora</span>l cancer</span> risk in Asians under three genetic models. 23681796

2013

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Subgroup analyses according to ethnicity, tumor site, publication year, genotyping method also detected no significant association in any subgroup, except that oral cancer was associated with Arg194Trp variant in recessive model. 24086310

2013

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer. 18410587

2008

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE The meta-analysis results suggest that the XRCC1 Arg399Gln and Arg280His polymorphisms are probably not associated with the risk of HNC, but the XRCC1 Arg194Trp polymorphism was associated with increased risk of HNC in the subgroup analysis of studies adjusted for smoking and alcohol and with increased risk of oral cancer in the stratified analyses based on cancer site. 24497981

2014

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE The best two-factor based G×G interaction of ora</span>l cancer included the XRCC1 rs1799782 and XRCC2 rs2040639 [OR=3.13, 95% CI=1.66-6.13]. 25831063

2015

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE The aim of this study was to investigate the relationship between the presence of allelic variants Arg194Trp (rs:1799782) and Arg399Gln (rs: 25487) of XRCC1 gene and Thr241Met (rs: 861539) of XRCC3 gene and susceptibility to oral cancer. 22775506

2013

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Among these 14 variants, 9 variants were reported to be significantly associated with the risk of oral cancer (CYP1A1-MspI, CYP2E1-RsaI/PstI, MTHFR-C677T, p73-G4C14-to-A4T14, XRCC1-Arg194Trp, CYP1A1-Ile462Val, GSTM1-±, and NAT2 slow vs rapid). 24102947

2014

dbSNP: rs1799782
rs1799782
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE However, after stratification, significant association was found between the XRCC1 Arg194Trp polymorphism and oral cancer risk among Asians, showing an OR of 1.347 (95% confidence interval (CI): 1.000, 1.814) for allele comparison, 1.378 (95% CI: 1.070, 1.775) for TT homozygotes versus CC homozygotes, and 1.420 (95% CI: 1.041, 1.936) for comparison under the dominant model. 19713684

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Folate intake, serum homocysteine and methylenetetrahydrofolate reductase (MTHFR) C677T genotype are not associated with oral cancer risk in Puerto Rico. 11925474

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Pooled results indicated that neither C677T</span> nor A1298C polymorphism was associated with oral cancer susceptibility. 28138253

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE The goals of this study were to evaluate the association of three genotypic polymorphism (MTHFR C677T, MTHFR A1298C and CBS 844ins68) and oral cancer risk in southeastern Brazilians and evaluate the interactions between polymorphisms and clinical histopathological parameters. 26749456

2016

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Here we observed MTHFR C677T to influence oral cancer susceptibility, while A1298C polymorphism associated with patient prognosis. 20923444

2011

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Those patients with MTHFR C677T CT and TT genotypes also had a lower risk of oral cancer metastasis. 21737671

2011

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Among these 14 variants, 9 variants were reported to be significantly associated with the risk of oral cancer (CYP1A1-MspI, CYP2E1-RsaI/PstI, MTHFR-C677T, p73-G4C14-to-A4T14, XRCC1-Arg194Trp, CYP1A1-Ile462Val, GSTM1-±, and NAT2 slow vs rapid). 24102947

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE Interaction between the MTHFR C677T polymorphism and alcohol--impact on oral cancer risk and multiple DNA methylation of tumor-related genes. 20940365

2011

dbSNP: rs1217691063
rs1217691063
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.080 GeneticVariation BEFREE These results suggest that MTHFR C677T polymorphism may play a role in oral cancer carcinogenesis in Asian population and heavy drinkers. 24488626

2014

dbSNP: rs878854066
rs878854066
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls. 22052649

2012

dbSNP: rs878854066
rs878854066
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE p53 polymorphisms, especially Arg72Pro in exon 4 could significantly modify the risk of oral cancer development in Gujarat, West Indian population. 23621193

2013

dbSNP: rs878854066
rs878854066
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE Polymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India. 14577584

2003

dbSNP: rs878854066
rs878854066
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE The present meta-analysis of currently available data shows no association between the p53 codon 72 Arg/Pro polymorphism and oral cancer risk. 23192640

2013

dbSNP: rs878854066
rs878854066
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE In the current meta-analysis which used the quantitative data synthesis for the first time, our study demonstrated that p53 Arg72Pro polymorphism together with HPV infection might jointly alter an individual's susceptibility to the risk of oral cancer. 26123760

2015

dbSNP: rs397507444
rs397507444
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE The MTHFR C677T genotype, but not the A1298C, was differently distributed between the oral cancer and control groups. 21737671

2011

dbSNP: rs397507444
rs397507444
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE Here we observed MTHFR C677T to influence oral cancer susceptibility, while A1298C polymorphism associated with patient prognosis. 20923444

2011

dbSNP: rs397507444
rs397507444
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.050 GeneticVariation BEFREE The goals of this study were to evaluate the association of three genotypic polymorphism (MTHFR C677T, MTHFR A1298C and CBS 844ins68) and oral cancer risk in southeastern Brazilians and evaluate the interactions between polymorphisms and clinical histopathological parameters. 26749456

2016