ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
Disease: Porphobilinogen synthase 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: rs121912981
rs121912981 		1.000 0.160 9 113389085 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 1 2007 2007
dbSNP: rs121912983
rs121912983 		1.000 0.160 9 113389088 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 5 1991 2007
dbSNP: rs121912980
rs121912980 		1.000 0.160 9 113390798 missense variant C/T snv 1.3E-05 4.9E-05
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs121912982
rs121912982 		1.000 0.160 9 113389521 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1991 2007
dbSNP: rs749066913
rs749066913 		1.000 0.160 9 113391634 intron variant G/A;T snv 4.0E-06
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0