DHFR, dihydrofolate reductase, 1719

N. diseases: 191; N. variants: 11
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913223
rs121913223 		1.000 0.040 5 80633904 missense variant T/A snv 4.0E-06
CUI: C3151205
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency 		Hemic and Lymphatic Diseases 0.810 1.000 2 2011 2011
dbSNP: rs387906619
rs387906619 		1.000 0.040 5 80649393 missense variant G/A snv 4.1E-06
CUI: C3151205
Disease: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 2 2011 2011