Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205155
rs786205155
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.710 GeneticVariation BEFREE Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. 26102509

2015

dbSNP: rs786205155
rs786205155
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
C 0.710 CausalMutation CLINVAR

dbSNP: rs121909646
rs121909646
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913488
rs121913488
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776834
rs587776834
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 CausalMutation CLINVAR

dbSNP: rs587782545
rs587782545
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 CausalMutation CLINVAR

dbSNP: rs63750250
rs63750250
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
AT 0.700 CausalMutation CLINVAR

dbSNP: rs730881864
rs730881864
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 GeneticVariation CLINVAR

dbSNP: rs752746786
rs752746786
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
T 0.700 CausalMutation CLINVAR

dbSNP: rs767215758
rs767215758
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 CausalMutation CLINVAR

dbSNP: rs767454740
rs767454740
NBN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
G 0.700 GeneticVariation CLINVAR

dbSNP: rs786205154
rs786205154
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312821
rs869312821
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
C 0.700 CausalMutation CLINVAR

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Our findings suggest that C677T polymorphism of MTHFR seems to be a good marker for MTX-related toxicity in ALL. 30545275

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia. 31499477

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE We observed a significant decrease in risk for the C677T polymorphism (OR range=0.54-0.75, p<0.01) and a significant increase in risk for the A1298C polymorphism (OR range=1.28-2.52, p<0.05) in developing ALL for all genetic models. 31188929

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Use of MTHFR C677T polymorphism and plasma pharmacokinetics to predict methotrexate toxicity in patients with acute lymphoblastic leukemia. 29911750

2018

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE The association was detected significantly between MTHFR C677T polymorphism and ALL reducing susceptibility. 28062297

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE There were no associations between MTHFR C677T or MTHFR A1298C polymorphisms and ALL susceptibility. 28646637

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE The MTHFR C677T and A1298C genotypes were analyzed using allele discrimination tests with Taq-Man fluorescent probes.The MTHFR 677TT genotype was related to a 2-fold increase in risk of ALL (P = .014). 29390492

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE In a case-control study of 203 patients with ALL and 246 controls and meta-analysis in the Indian population, we showed an insignificant association of MTHFR C677T and A1298C genotypes with childhood and adult ALL. 25115513

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model. 25099492

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE No significant differences were found between patients with ALL and controls for the frequency of MTHFR C677T and A1298C alleles, genotypes, combined genotypes or haplotypes. 25629981

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE The aim of our study was to investigate the influence of C677T and A1298C polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene on MTX-induced toxicity during treatment of children with ALL. 26528799

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Our results indicated that the MTHFR C677T T allele was a protective biomarker for childhood ALL in Taiwan, and the association was more significant in male patients and in patients 3.5 years of age or older at onset of disease. 25793509

2015