ETHE1, ETHE1 persulfide dioxygenase, 23474

N. diseases: 46; N. variants: 28
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: rs28940289
rs28940289 		1.000 0.200 19 43511455 missense variant G/A;C snv 2.4E-05 3.5E-05
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.810 1.000 5 2004 2014
dbSNP: rs1284200516
rs1284200516 		1.000 0.200 19 43511536 missense variant T/C snv 4.0E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 5 2004 2012
dbSNP: rs1555765564
rs1555765564 		1.000 0.200 19 43526628 splice donor variant T/C snv
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2004 2012
dbSNP: rs387906987
rs387906987 		1.000 0.200 19 43508816 missense variant A/C snv 1.2E-05 1.4E-05
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2004 2012
dbSNP: rs763799125
rs763799125 		1.000 0.200 19 43508784 missense variant C/G;T snv 2.6E-05
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2004 2012
dbSNP: rs745656120
rs745656120 		1.000 0.200 19 43511454 missense variant C/T snv 5.2E-05 2.1E-05
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2004 2016
dbSNP: rs761827730
rs761827730 		1.000 0.200 19 43526609 frameshift variant CT/- delins 1.2E-05 7.0E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2004 2018
dbSNP: rs1555765524
rs1555765524 		1.000 0.200 19 43526514 splice donor variant C/A snv
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2004 2009
dbSNP: rs761661864
rs761661864 		1.000 0.200 19 43508773 splice donor variant A/C snv 4.4E-06 1.4E-05
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2004 2009
dbSNP: rs935855792
rs935855792 		0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2004 2008
dbSNP: rs119103249
rs119103249 		1.000 0.200 19 43527175 start lost C/A;T snv 7.5E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1211555765
rs1211555765 		1.000 0.200 19 43527256 intron variant CGGGG/-;CGGGGCGGGG delins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1268640442
rs1268640442 		1.000 0.200 19 43511451 missense variant G/C;T snv
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1317633085
rs1317633085 		1.000 0.200 19 43511487 missense variant G/A snv 4.0E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555761934
rs1555761934 		1.000 0.200 19 43508051 frameshift variant -/C delins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555762070
rs1555762070 		1.000 0.200 19 43508777 frameshift variant -/G delins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555762722
rs1555762722 		1.000 0.200 19 43511460 missense variant C/T snv
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555762753
rs1555762753 		1.000 0.200 19 43511492 frameshift variant CCATGCTGTGG/- delins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555765481
rs1555765481 		1.000 0.200 19 43526346 frameshift variant T/- delins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555765528
rs1555765528 		1.000 0.200 19 43526518 frameshift variant -/T ins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555765689
rs1555765689 		1.000 0.200 19 43527112 frameshift variant G/- delins
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555765701
rs1555765701 		1.000 0.200 19 43527144 stop gained G/A snv
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs182983506
rs182983506 		1.000 0.200 19 43526577 missense variant A/G snv
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs368778231
rs368778231 		1.000 0.200 19 43526554 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs749803238
rs749803238 		1.000 0.200 19 43527099 stop gained G/A;T snv 1.3E-05; 6.5E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0