Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555337681
rs1555337681
0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659

2017

dbSNP: rs1555337681
rs1555337681
0.800 GeneticVariation UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902

2015

dbSNP: rs1555337681
rs1555337681
T 0.800 GeneticVariation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902

2015

dbSNP: rs1555337681
rs1555337681
0.800 GeneticVariation UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566

2011