Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335

2015
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. 20236116

2010
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. 10679944

2000
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. 9781030

1998
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. 8940272

1996
dbSNP: rs786204037
rs786204037
MTHFR
0.800 GeneticVariation UNIPROT Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. 7726158

1995
dbSNP: rs786204037
rs786204037
MTHFR
G 0.800 CausalMutation CLINVAR