Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913223
rs121913223
DHFR
0.810 GeneticVariation UNIPROT Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. 21310276

2011
dbSNP: rs121913223
rs121913223
DHFR
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
dbSNP: rs121913223
rs121913223
DHFR
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
dbSNP: rs121913223
rs121913223
DHFR
A 0.810 CausalMutation CLINVAR

dbSNP: rs387906619
rs387906619
DHFR
0.800 GeneticVariation UNIPROT Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. 21310276

2011
dbSNP: rs387906619
rs387906619
DHFR
0.800 GeneticVariation UNIPROT Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. 21310277

2011
dbSNP: rs387906619
rs387906619
DHFR
A 0.800 CausalMutation CLINVAR