rs9651118, MTHFR

N. diseases: 20
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Moyamoya disease 1
CUI: C2931384
Disease: Moyamoya disease 1
0.710 GeneticVariation BEFREE Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases. 29273593 2018
Moyamoya Disease
CUI: C0026654
Disease: Moyamoya Disease
0.710 GeneticVariation BEFREE Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases. 29273593 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.010 GeneticVariation BEFREE In summary, our findings suggested that MTHFR rs3753584, rs9651118 and rs1801133 polymorphisms may affect the risk of HCC in Chinese Han population. 31694048 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE We aimed to evaluate the associations of MTHFR (rs1801133, rs1801131, rs9651118), TCN2 (rs117353193) and RNF213 (rs9916351) with hypertension and blood pressure (BP). 31815282 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE In addition, <i>MTHFR</i> rs9651118 T>C polymorphism increased the risk of NSCLC in < 60 years, never smoking and BMI < 24 kg/m<sup>2</sup> subgroups. 29299150 2017
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.010 GeneticVariation BEFREE In a stratified analysis by CRC region, we found <i>MTHFR</i> rs3753584 T>C and rs9651118 T>C polymorphisms were associated with the increased risk of colon cancer. 28969008 2017
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.010 GeneticVariation BEFREE In a stratified analysis by CRC region, we found <i>MTHFR</i> rs3753584 T>C and rs9651118 T>C polymorphisms were associated with the increased risk of colon cancer. 28969008 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE In conclusion, findings of the present study reveal that the tagging polymorphisms in <i>MTHFR</i> gene (rs3753584 T>C, rs9651118 T>C and rs4845882 G>A) are associated with the increased risk of CRC. 28969008 2017
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
0.010 GeneticVariation BEFREE Also, a significant increase in the risk of CP was observed to be associated with the interactions of TNF-α rs1799724 and MTHFR rs9651118 (OR 2.75, 95 % CI 1.23-6.13). 26646537 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE In conclusion, our data provide rationale to further validate the clinical utility of <i>MTHFR</i> rs9651118 as a biomarker for prognosis in prostate cancer. 27916838 2016
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE In conclusion, our data provide rationale to further validate the clinical utility of <i>MTHFR</i> rs9651118 as a biomarker for prognosis in prostate cancer. 27916838 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Besides, MTHFR rs9651118 CC genotype was significantly associated with survival in breast cancer</span> cases (adjusted hazard ratio (HR) = 0.63, 95 % CI 0.40-0.99). 25566964 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Besides, MTHFR rs9651118 CC genotype was significantly associated with survival in breast cancer</span> cases (adjusted hazard ratio (HR) = 0.63, 95 % CI 0.40-0.99). 25566964 2015
AIDS related complex
CUI: C0001857
Disease: AIDS related complex
0.010 GeneticVariation BEFREE Haplotype analyses revealed an adverse effect of the haplotype "C-A-T-C" (alleles in order of SNPs rs3737967, rs1801131, rs1801133 and rs9651118) on ARC risk (OR = 1.55, P = 0.003). 26689687 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CTCCGA haplotype (rs12121543-rs13306553-rs9651118-rs1801133-rs2274976-rs1801131) had significant reduced risk of T2DM (adjusted OR = 0.71, 95% CI: 0.58-0.87, P = 0.001) compared with CTTTGA haplotype. 25165408 2014
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Our results demonstrated that MTHFR rs1801133 C>T was associated with the risk of ESCC; however, MTHFR rs4845882 G>A and rs4846048 A>G SNPs were associated with the decreased risk of ESCC, and MTHFR rs3753584 A>G and rs9651118 T>C SNPs were not associated with ESCC risk. 24687778 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 95% CI: 0.41-0.90; rs2924471; OR = 3.31; 95% CI: 1.66-6.59), and MTHFR (rs9651118; OR = 0.63; 95% CI: 0.43-0.95) and three SNP*nutrient interactions (choline*rs10475407; OR = 1.62; 95% CI: 1.11-2.42; choline*rs11134290; OR = 0.51; 95% CI: 0.27-0.92; and riboflavin*rs8767412; OR = 0.40; 95% CI: 0.15-0.95) were associated with lung cancer risk in never smokers. 23372658 2013
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 95% CI: 0.41-0.90; rs2924471; OR = 3.31; 95% CI: 1.66-6.59), and MTHFR (rs9651118; OR = 0.63; 95% CI: 0.43-0.95) and three SNP*nutrient interactions (choline*rs10475407; OR = 1.62; 95% CI: 1.11-2.42; choline*rs11134290; OR = 0.51; 95% CI: 0.27-0.92; and riboflavin*rs8767412; OR = 0.40; 95% CI: 0.15-0.95) were associated with lung cancer risk in never smokers. 23372658 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 95% CI: 0.41-0.90; rs2924471; OR = 3.31; 95% CI: 1.66-6.59), and MTHFR (rs9651118; OR = 0.63; 95% CI: 0.43-0.95) and three SNP*nutrient interactions (choline*rs10475407; OR = 1.62; 95% CI: 1.11-2.42; choline*rs11134290; OR = 0.51; 95% CI: 0.27-0.92; and riboflavin*rs8767412; OR = 0.40; 95% CI: 0.15-0.95) were associated with lung cancer risk in never smokers. 23372658 2013
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE However, confirmatory analyses of three tagging SNPs (rs1801133, rs17037396, and rs9651118) and the top SNP (rs17421511) for the imputation results (patients with schizophrenia = 797, control subjects = 1025) failed to replicate the haplotypic analysis and the imputation results. 20692813 2010