ACY1, aminoacylase 1, 95

N. diseases: 62; N. variants: 11
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: rs121912698
rs121912698 		1.000 0.080 3 51988821 missense variant C/T snv 2.7E-03 2.6E-03
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2005 2011
dbSNP: rs121912699
rs121912699 		1.000 0.080 3 51987188 missense variant A/C snv 9.5E-05 2.1E-05
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2005 2011
dbSNP: rs121912700
rs121912700 		1.000 0.080 3 51986993 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2005 2011
dbSNP: rs121912701
rs121912701 		1.000 0.080 3 51989026 missense variant G/A snv 3.7E-03 3.4E-03
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2005 2011
dbSNP: rs150480963
rs150480963 		1.000 0.080 3 51988981 missense variant G/A snv 4.5E-04 6.3E-05
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2005 2011
dbSNP: rs62259756
rs62259756 		3 51984493 non coding transcript exon variant A/G snv 0.12
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs148346337
rs148346337 		1.000 0.080 3 51988980 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2229152
rs2229152 		1.000 0.080 3 51989004 missense variant C/T snv 1.5E-03 5.1E-03
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906579
rs387906579 		1.000 0.080 3 51988948 frameshift variant -/AC delins
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs672601330
rs672601330 		1.000 0.080 3 51986254 splice acceptor variant G/A snv 8.0E-06
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs672601350
rs672601350 		1.000 0.080 3 51988603 splice donor variant TGTGAG/- del
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0