Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency ×
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: rs121964954
rs121964954 		0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.830 1.000 12 2003 2019
dbSNP: rs398124152
rs398124152 		1.000 0.080 4 158706270 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 2003 2016
dbSNP: rs121964956
rs121964956 		0.925 0.080 4 158682399 missense variant T/A;C snv 8.0E-06; 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 2003 2010
dbSNP: rs387907170
rs387907170 		0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 2003 2010
dbSNP: rs377656387
rs377656387 		0.925 0.080 4 158706351 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2007 2014
dbSNP: rs377686388
rs377686388 		1.000 0.080 4 158699015 missense variant T/C snv 2.4E-05 2.8E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2003 2007
dbSNP: rs779896449
rs779896449 		1.000 0.080 4 158684599 missense variant T/G snv 8.0E-06 1.4E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs549150456
rs549150456 		1.000 0.080 4 158684649 missense variant A/G snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2019 2019
dbSNP: rs121964955
rs121964955 		0.925 0.080 4 158685137 missense variant G/A;C;T snv 1.6E-05; 8.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2010
dbSNP: rs761669036
rs761669036 		1.000 0.080 4 158708505 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2010
dbSNP: rs887871605
rs887871605 		1.000 0.080 4 158682264 missense variant C/T snv 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2010
dbSNP: rs200920510
rs200920510 		1.000 0.080 4 158706761 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2012
dbSNP: rs780768015
rs780768015 		1.000 0.080 4 158706691 missense variant G/A snv 2.0E-05 1.5E-04
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2014
dbSNP: rs796051964
rs796051964 		1.000 0.080 4 158680482 frameshift variant -/T delins
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2007
dbSNP: rs746598421
rs746598421 		1.000 0.080 4 158706317 missense variant G/A snv 3.6E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2012
dbSNP: rs767046886
rs767046886 		1.000 0.080 4 158703592 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2006 2013
dbSNP: rs773668457
rs773668457 		1.000 0.080 4 158680553 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2014
dbSNP: rs1358691961
rs1358691961 		1.000 0.080 4 158699051 missense variant A/G snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1442766122
rs1442766122 		1.000 0.080 4 158706228 missense variant C/T snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1466787789
rs1466787789 		1.000 0.080 4 158703447 missense variant G/C snv
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1482632936
rs1482632936 		1.000 0.080 4 158690406 missense variant A/C snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398124151
rs398124151 		1.000 0.080 4 158703540 stop gained G/T snv 1.2E-05 3.5E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs748289922
rs748289922 		1.000 0.080 4 158690393 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs751821289
rs751821289 		1.000 0.080 4 158706269 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs796051962
rs796051962 		1.000 0.080 4 158682314 frameshift variant -/GT delins
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0