ASAH1, N-acylsphingosine amidohydrolase 1, 427

N. diseases: 176; N. variants: 21
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: rs137853594
rs137853594 		1.000 0.120 8 18064501 missense variant T/A snv 4.3E-06
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1996 2016
dbSNP: rs137853595
rs137853595 		1.000 0.120 8 18075559 missense variant T/C;G snv
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1996 2016
dbSNP: rs137853596
rs137853596 		1.000 0.120 8 18059424 missense variant T/C snv
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1996 2016
dbSNP: rs137853597
rs137853597 		1.000 0.120 8 18062383 missense variant G/A;C snv 1.2E-05
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1996 2016
dbSNP: rs1554808625
rs1554808625 		1.000 0.120 8 18061686 missense variant C/G snv
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1996 2016
dbSNP: rs145873635
rs145873635 		0.851 0.160 8 18075541 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C1834569
Disease: Jankovic Rivera syndrome
Jankovic Rivera syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2012 2016
dbSNP: rs137853593
rs137853593 		1.000 0.120 8 18061724 missense variant G/A;C;T snv 5.1E-06
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 11 1996 2016