Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1001761
rs1001761
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 GeneticVariation BEFREE Interactions between SNPs and water As on skin lesion risk were suggestive for three variants: the G allele of MTRR rs1801394 and T allele of FOLR1 rs1540087 were associated with lower odds of skin lesions with lower As (≤50 μg/L), and the T allele of TYMS rs1001761 was associated with higher odds of skin lesions with higher As. 29421402

2018

dbSNP: rs1001761
rs1001761
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.010 GeneticVariation BEFREE With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3). 19493349

2009

dbSNP: rs1059394
rs1059394
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 GeneticVariation BEFREE In the study, we evaluated associations of three germline variants (rs2790 A > G, rs16430 6 bp > 0 bp, and rs1059394 C > T) in the predicted miRNA-binding sites of TYMS with risk of sporadic breast cancer in non-Hispanic white women aged ≤ 55. 24166930

2015

dbSNP: rs1448674651
rs1448674651
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.010 GeneticVariation BEFREE The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. 25858821

2015

dbSNP: rs1448674651
rs1448674651
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE Gene-gene interactions within one-carbon metabolic pathway were observed in CAD (GCPII 1561 C>T, SHMT 1420 C>T and MTHFR 677 C>T) and PD (cSHMT 1420 C>T, MTRR 66 A>G and RFC1 80 G>A). 25648260

2015

dbSNP: rs1448674651
rs1448674651
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children. 24771227

2014

dbSNP: rs1448674651
rs1448674651
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children. 24771227

2014

dbSNP: rs1448674651
rs1448674651
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children. 24771227

2014

dbSNP: rs1448674651
rs1448674651
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation BEFREE Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR-A2756G) may increase the risk of CHD. 23701284

2013

dbSNP: rs1448674651
rs1448674651
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 GeneticVariation BEFREE This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion). 20868477

2010

dbSNP: rs1448674651
rs1448674651
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 GeneticVariation BEFREE A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed to investigate whether the polymorphisms of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), carrier of reduced folate 1 (RFC-1 A80G) and thymidylate synthase (TYMS 2R > 3R) altered the risk for retinoblastoma. 20310006

2010

dbSNP: rs1448674651
rs1448674651
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion). 20868477

2010

dbSNP: rs1448674651
rs1448674651
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 GeneticVariation BEFREE The Ala allele in OPRT Gly213Ala polymorphism and the two tandem repeats (2R) in TYMS promoter polymorphism were associated with grade 3 to 4 neutropenia and diarrhea. 16818689

2006

dbSNP: rs1448674651
rs1448674651
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.010 GeneticVariation BEFREE The Ala allele in OPRT Gly213Ala polymorphism and the two tandem repeats (2R) in TYMS promoter polymorphism were associated with grade 3 to 4 neutropenia and diarrhea. 16818689

2006

dbSNP: rs1448674651
rs1448674651
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 GeneticVariation BEFREE The Ala allele in OPRT Gly213Ala polymorphism and the two tandem repeats (2R) in TYMS promoter polymorphism were associated with grade 3 to 4 neutropenia and diarrhea. 16818689

2006

dbSNP: rs1448674651
rs1448674651
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 GeneticVariation BEFREE Neither MTR D919G nor RFC 80G>A polymorphisms were associated with altered colon cancer risk. 16284371

2005

dbSNP: rs1448674651
rs1448674651
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Neither MTR D919G nor RFC 80G>A polymorphisms were associated with altered colon cancer risk. 16284371

2005

dbSNP: rs1448674651
rs1448674651
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple repeat [3R]-->double repeat [2R], 1494del6, IVS6 -68C>T, 1122A>G, and 1053C>T); 5,10-methylenetetrahydrofolate reductase (MTHFR 677C>T and 1298A>C); serine hydroxymethyltransferase (SHMT1 C1420T); reduced folate carrier (RFC G80A); and methionine synthase (MTR A2756G), making the present study the largest and most comprehensive to date to evaluate associations between genetic polymorphisms in folatemetabolizing genes and NHL risk. 15198953

2004

dbSNP: rs1448674651
rs1448674651
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and TS (28-bp tandem repeats located in the TS enhancer region [TSER*2/*3]) and of MTXPGs to the effect of MTX in patients with rheumatoid arthritis. 15457444

2004

dbSNP: rs151264360
rs151264360
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
0.010 GeneticVariation BEFREE The 6-bp deletion [rs151264360, OR: 0.79 (0.20-3.19)] was not associated with the development of MTX-induced oral mucositis. 30222710

2018

dbSNP: rs151264360
rs151264360
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 GeneticVariation BEFREE Two polymorphisms were independently associated with the development of severe hyponatremia among patients carrying the minor allele (vs. patients with major homozygote genotype): TYMS 3'-UTR rs151264360 (odds ratio, 3.64; 95% confidence interval, 1.11-11.9) and XPD Lys751Gln rs13181 (odds ratio, 10.1; 95% confidence interval, 1.10-93.3). 30214618

2018

dbSNP: rs151264360
rs151264360
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.010 GeneticVariation BEFREE The 6-bp deletion [rs151264360, OR: 0.79 (0.20-3.19)] was not associated with the development of MTX-induced oral mucositis. 30222710

2018

dbSNP: rs2606241
rs2606241
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic
0.010 GeneticVariation BEFREE We found 4 positive sites for HFS in the TYMS and MTHFR genes: TYMS rs2606241 (P = 0.022), TYMS rs2853741 (P = 0.019), MTHFR rs3737964 (P = 0.029), and MTHFR rs4846048 (P = 0.030). 31601265

2019

dbSNP: rs2790
rs2790
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE The Sequenom MassARRAY system was used for TYMS rs2790 A > G genotyping in 118 children with ALL. 29500934

2018

dbSNP: rs2790
rs2790
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 GeneticVariation BEFREE In the study, we evaluated associations of three germline variants (rs2790 A > G, rs16430 6 bp > 0 bp, and rs1059394 C > T) in the predicted miRNA-binding sites of TYMS with risk of sporadic breast cancer in non-Hispanic white women aged ≤ 55. 24166930

2015