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: 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
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: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-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 0.710 1.000 1 2017 2017
dbSNP: rs543697946
rs543697946 		1.000 0.120 8 18059385 missense variant G/A;C snv 5.6E-05; 8.0E-06 7.0E-06
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 11 1996 2016
dbSNP: rs7508
rs7508 		1.000 0.080 8 18056461 3 prime UTR variant G/A snv 0.77
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 3 2017 2018
dbSNP: rs1411267767
rs1411267767 		1.000 0.120 8 18062278 splice donor variant C/G;T snv
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs147896487
rs147896487 		1.000 0.040 8 18084767 missense variant C/G snv 1.3E-03 1.5E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs368345612
rs368345612 		8 18057568 missense variant A/C;G snv 8.0E-06; 8.0E-06
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		0.700 1.000 1 2017 2017
dbSNP: rs397509415
rs397509415 		1.000 0.120 8 18059568 splice region 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 0.700 1.000 1 2013 2013
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		Mental Disorders 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs756455049
rs756455049 		1.000 0.120 8 18062422 missense variant A/G snv 4.0E-06
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs779888892
rs779888892 		1.000 0.160 8 18075542 missense variant T/C snv 1.6E-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 0.700 0
dbSNP: rs794729663
rs794729663 		1.000 0.160 8 18059639 stop gained C/A snv
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 0.700 0
dbSNP: rs1177783734
rs1177783734 		0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1177783734
rs1177783734 		0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1177783734
rs1177783734 		0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018