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

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

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE However, 677T allele was linked to a decrease risk of ALL [odds ratio (OR), 0.43; 95% confidence interval (CI), 0.22-0.86], whereas the 1298A>C polymorphism presents an elevated risk factor [OR, 2.01; 95% CI, 1.01-3.99] in non-White children. 16182363

2006

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE We retrospectively evaluated the association of the MTHFR 677C>T and 1298A>C polymorphisms with pediatric ALL by genotyping a study sample of 443 ALL patients consecutively enrolled onto the German multicenter trial ALL-BFM 2000 and 379 healthy controls. 15921520

2005

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Our results suggest that the MTHFR C677T and A1298C polymorphisms may be potential biomarkers for ALL risk in Chinese populations, and studies with a larger sample size and wider population spectrum are required before definitive conclusions can be drawn. 25342508

2014

dbSNP: rs397507444
rs397507444
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: rs397507444
rs397507444
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: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE In conclusion, MTHFR C677T was linked to a significant 2.4-fold decreased risk of developing childhood ALL, whereas MTHFR A1298C did not significantly affect the risk of ALL in our population. 11736945

2001

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE The genetic association studies (GAS) that investigated the association between ALL and the MTHFR C677T and A1298C gene variants have produced contradictory or inconclusive results. 22094326

2012

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE A meta-analysis of case-control studies that investigated the association between the C677T and/or A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and acute lymphoblastic leukemia (ALL) was carried out. 16897583

2006

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE We investigated a possible association of MTHFR polymorphisms (677C>T and 1298A>C) and increased risk for acute lymphoblastic leukemia in 78 affected children. 20445408

2010

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE No significant relation was found between MTHFR A1298C polymorphism and the risks of therapy induced complications or relapse rate in the studied ALL patients. 19923983

2010

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE It has been suggested that two MTHFR polymorphisms, 677C>T and 1298A>C, influence risk of acute lymphoblastic leukemia (ALL). 20374270

2010

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Seventy-two children with ALL and 109 age- and sex-matched healthy children from Western Iran were screened for MTHFR C677T and A1298C variants by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). 22017305

2012

dbSNP: rs397507444
rs397507444
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: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE For the MTHFR A1298C polymorphism, no significant association with ALL susceptibility was observed in the pooled analyses. 21702646

2011

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Most studies found a strong association between the polymorphisms MTHFR, C677T or A1298C, and NQO1*2 or *3 and the risk of acute lymphoblastic leukemia (ALL). 17023046

2006

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE However, a significant association was detected between the MTHFR A1298C/ RFC G80A genotype and a nonpredisposition for ALL (P = 0.035). 24237708

2014

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE To evaluate the effects of the genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) on childhood ALL risk in Taiwan, two well-known polymorphic genotypes of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed to examine the extent of their associations with childhood ALL susceptibility and to discuss the MTHFR genotypic contribution to childhood ALL risk among different populations. 25793509

2015

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: effect on methotrexate-related toxicity in adult acute lymphoblastic leukaemia. 23183238

2013

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE No association between the A1298C variant and susceptibility to both adult and childhood ALL was disclosed. 17035405

2006

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE 5,10-methylenetetrahydrofolate reductase (MTHFR) variants, C677T and A1298C, have been reported to be associated with decreased risk of acute lymphoblastic leukemia (ALL). 22943282

2012

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE The A1298C polymorphism had an effect on ALL risk neither in adults (Dominant model: OR(FE)=0.95, 95% CI: 0.71-1.27, p=0.72) nor in children (Dominant model: OR(FE)=1.02, 95% CI: 0.87-1.21, p=0.77). 23061880

2012

dbSNP: rs397507444
rs397507444
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Our findings suggest that MTHFR C677T and A1298C polymorphisms are unlikely to affect the development of childhood ALL in an Egyptian population from Delta. 25629981

2015