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: rs104894177
rs104894177 		1.000 0.120 10 70884021 missense variant A/G snv 1.2E-05
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1993 1998
dbSNP: rs104894172
rs104894172 		1.000 0.120 10 70884006 stop gained C/A snv 6.8E-05 4.9E-05
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 1993 2014
dbSNP: rs397518416
rs397518416 		1.000 0.120 10 70883976 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1993 1998
dbSNP: rs10999573
rs10999573 		10 70884621 intron variant A/G snv 0.32
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs770334825
rs770334825 		1.000 0.120 10 70883952 stop lost A/G snv 4.0E-06
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs115117837
rs115117837 		1.000 0.120 10 70884002 missense variant C/G;T snv 4.0E-06; 2.7E-04
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913014
rs121913014 		1.000 0.120 10 70884029 missense variant G/A snv
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913015
rs121913015 		1.000 0.120 10 70883973 stop gained G/A snv 1.4E-04 1.3E-04
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0