ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Source: CURATED ×
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: rs763542069
rs763542069 		1.000 0.120 22 40364361 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 13 1992 2013
dbSNP: rs777821034
rs777821034 		1.000 0.120 22 40365027 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 11 1992 2013
dbSNP: rs119450940
rs119450940 		1.000 0.120 22 40365000 missense variant T/C snv
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs119450942
rs119450942 		1.000 0.120 22 40349976 missense variant C/G snv 4.0E-06
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs119450943
rs119450943 		1.000 0.120 22 40364952 missense variant G/T snv 2.0E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs119450944
rs119450944 		1.000 0.120 22 40360436 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs376533026
rs376533026 		1.000 0.120 22 40364294 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs119450941
rs119450941 		1.000 0.120 22 40364965 missense variant G/A snv 2.0E-04 2.3E-04
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 15 1999 2016
dbSNP: rs17001868
rs17001868 		0.925 0.080 22 40382227 intron variant A/C snv 0.12
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2018 2018