rs121913223, DHFR

N. diseases: 2
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
CUI: C3151205
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
0.810 GeneticVariation UNIPROT Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. 21310276 2011
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
CUI: C3151205
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
0.810 GeneticVariation BEFREE In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid. 21310277 2011
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
CUI: C3151205
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
0.810 GeneticVariation UNIPROT In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid. 21310277 2011
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
CUI: C3151205
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
0.810 CausalMutation CLINVAR