Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Among these three factors, folate deficiency had the greatest contribution to the serum tHcy concentration, followed by (in order of decreasing effect) MTHFR C677T and vitamin B12 deficiency. 28094233

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE This computational model shows that de novo dTMP synthesis is highly sensitive to the common MTHFR C677T polymorphism and that the effect of the polymorphism on FOCM is greater in folate deficiency. 28400561

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE We aimed to explore the joint effect of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, and methionine synthase reductase (MTRR) A66G polymorphisms on folate deficiency in a Chinese hypertensive population. 26266420

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE The common polymorphisms of the MTHFR (C677T and A1298C), MTRR (A66G), and MTR (A2756G) enzymes are well documented as folate deficiency-related disorders, but their roles have not been examined in acromegalic patients. 26154858

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Interactions between MTHFR C677T-A1298C variants and folic acid deficiency affect breast cancer risk in a Chinese population. 22901194

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Folate deficiency and the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism have been linked to negative symptoms in schizophrenia both independently and synergistically. 21334854

2011

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Folate deficiency and MTHFR C677T polymorphisms have been shown to be related to DNA damage. 19121630

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Folate deficiency and the presence of the 677C > T (CT) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene have been implicated in the causation of malformations in the fetus (particularly cleft lip and palate and neural tube defects). 17951123

2008

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE The C677T mutation of the methylenetetrahydrofolate reductase gene may induce hyperhomocysteinemia and could slightly increase the risk of arterial or venous thrombosis and pregnancy loss in individuals with folic acid deficiency. 16185908

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Effects of folic acid deficiency and MTHFR C677T polymorphism on spontaneous and radiation-induced micronuclei in human lymphocytes. 16950805

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE The 677C > T mutation in mothers, either in a homozygous or heterozygous state, together with poor nutritional status (probable folate deficiency) may represent a risk factor for irreversible HIEN in the offspring. 15617551

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Serum total homocysteine levels and the prevalence of folic acid deficiency and C677T mutation at the MTHFR gene in an indigenous population of Amazonia: the relationship of homocysteine with other cardiovascular risk factors. 15002923

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C-->T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa. 15051606

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE However, inasmuch as fewer than a third of patients with HHcy were C677T MTHFR homozygous or had vitamin B(12) or folate deficiency, other mechanisms must be responsible in the majority. 14603192

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Results show that the C677T polymorphism does not affect the ability of a cell to resist chromosome damage induced by folic acid deficiency in this in vitro system. 11588136

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T polymorphism does not alter folic acid deficiency-induced uracil incorporation into primary human lymphocyte DNA in vitro. 11408344

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.100 GeneticVariation BEFREE Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism may cause hyperhomocysteinaemia, a recognized risk factor for stroke, in individuals with folate deficiency. 10583261

1999