Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0021364
Disease:
Male infertility
0.010 GeneticVariation BEFREE The chi-square test was used to determine the association between MTHFD1 G1958A polymorphism and male infertility, using SPSS software.P?0.05 was considered significant. 30882176 2019
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). 30867013 2019
dbSNP: rs1950902
rs1950902
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0023980
Disease:
Longevity
0.700 GeneticVariation GWASCAT Sex Differences in Genetic Associations With Longevity. 30294719 2018
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0000768
Disease:
Congenital Abnormality
0.030 GeneticVariation BEFREE A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. 29659962 2018
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1737329
Disease:
Dysmorphism
0.010 GeneticVariation BEFREE A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. 29659962 2018
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). 29392422 2018
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation. 28968444 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation. 28968444 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0018798
Disease:
Congenital Heart Defects
0.030 GeneticVariation BEFREE Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects. 28865601 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0000768
Disease:
Congenital Abnormality
0.030 GeneticVariation BEFREE In people, a single nucleotide polymorphism of this gene (1958G>A; rs2236225) is associated with increased risk for bipolar disorder and schizophrenia, neural tube and other birth defects. 28559181 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0005586
Disease:
Bipolar Disorder
0.020 GeneticVariation BEFREE In people, a single nucleotide polymorphism of this gene (1958G>A; rs2236225) is associated with increased risk for bipolar disorder and schizophrenia, neural tube and other birth defects. 28559181 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE In people, a single nucleotide polymorphism of this gene (1958G>A; rs2236225) is associated with increased risk for bipolar disorder and schizophrenia, neural tube and other birth defects. 28559181 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0220810
Disease:
Congenital defects
0.010 GeneticVariation BEFREE In people, a single nucleotide polymorphism of this gene (1958G>A; rs2236225) is associated with increased risk for bipolar disorder and schizophrenia, neural tube and other birth defects. 28559181 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0000768
Disease:
Congenital Abnormality
0.030 GeneticVariation BEFREE The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. 28398708 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0302142
Disease:
Deformity
0.010 GeneticVariation BEFREE The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. 28398708 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4024948
Disease:
Anterior encephalocele
0.010 GeneticVariation BEFREE This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population. 28398708 2017
dbSNP: rs8006686
rs8006686
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.010 GeneticVariation BEFREE Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients. 28299500 2018
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE Functional gene variants in MTR (rs1805087), CBS (rs5742905), MTHFR (rs1801133 &rs1801131), MTHFD (rs2236225), RFC1 (rs1051266), plasma vitamin B12, folate and homocysteine were analyzed. rs1805087 'A' showed strong association with ADHD. 28250422 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0021125
Disease:
Impulsive Behavior
0.010 GeneticVariation BEFREE Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225. 28250422 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0424295
Disease:
Hyperactive behavior
0.010 GeneticVariation BEFREE Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225. 28250422 2017
dbSNP: rs1076991
rs1076991
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0155626
Disease:
Acute myocardial infarction
0.020 GeneticVariation BEFREE Similarly, low plasma glycine showed stronger risk relationship with AMI</span> in the rs1076991 CC genotype carriers but weaker associations in patients carrying the minor T allele (P<sub>interaction</sub>=0.02). 27872106 2016
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Associations of plasma serine and glycine concentrations with risk of AMI</span> across 2 common and functional MTHFD1 polymorphisms (rs2236225 and rs1076991) were explored in Cox regression models. 27872106 2016
dbSNP: rs2281603
rs2281603
Entrez Id: 4522;7597
Gene Symbol: MTHFD1;ZBTB25
MTHFD1;ZBTB25
CUI: C0200635
Disease:
Lymphocyte Count measurement
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
C 0.800 GeneticVariation CLINVAR Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017