IVD, isovaleryl-CoA dehydrogenase, 3712

N. diseases: 42; N. variants: 65
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: rs28940889
rs28940889 		1.000 0.080 15 40415454 missense variant C/T snv 6.4E-04 7.5E-04
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 10 1991 2017
dbSNP: rs2229311
rs2229311 		1.000 0.080 15 40407640 missense variant G/A;C;T snv 2.8E-05; 1.6E-05; 4.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1998 2017
dbSNP: rs773560012
rs773560012 		1.000 0.080 15 40418190 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1991 2017
dbSNP: rs142761835
rs142761835 		1.000 0.080 15 40410699 missense variant G/A snv 2.8E-05 1.3E-04
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1991 2017
dbSNP: rs371427844
rs371427844 		1.000 0.080 15 40418165 missense variant C/T snv 4.0E-06 4.2E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2017
dbSNP: rs1477527791
rs1477527791 		1.000 0.080 15 40418175 missense variant G/A snv 1.4E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2012 2014
dbSNP: rs2034650
rs2034650 		1.000 0.040 15 40425103 intron variant G/A snv 0.46
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs121434284
rs121434284 		0.925 0.080 15 40405952 missense variant T/C snv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs121434285
rs121434285 		0.925 0.080 15 40411600 missense variant G/T snv 8.0E-06; 8.0E-06 2.1E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs754600862
rs754600862 		1.000 0.080 15 40416336 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs760822119
rs760822119 		1.000 0.080 15 40416293 missense variant T/C snv 4.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs398123683
rs398123683 		1.000 0.080 15 40410799 splice donor variant T/C snv 2.0E-05 1.4E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2000 2014
dbSNP: rs2289328
rs2289328 		15 40413218 intron variant G/A snv 0.12
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs34695403
rs34695403 		1.000 0.080 15 40407639 missense variant C/G;T snv 2.4E-05; 1.2E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2007
dbSNP: rs786204427
rs786204427 		1.000 0.080 15 40411257 splice acceptor variant CA/GG mnv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2011
dbSNP: rs786204613
rs786204613 		1.000 0.080 15 40418168 frameshift variant T/- delins
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1991 2012
dbSNP: rs1555404784
rs1555404784 		1.000 0.080 15 40414888 splice acceptor variant G/A snv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2000
dbSNP: rs373594717
rs373594717 		1.000 0.080 15 40405819 start lost A/C;G;T snv 4.0E-06; 4.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1990 1992
dbSNP: rs566691073
rs566691073 		1.000 0.080 15 40405820 start lost T/C;G snv 1.6E-05 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1990 1992
dbSNP: rs769048174
rs769048174 		1.000 0.080 15 40410722 frameshift variant T/- del 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2013
dbSNP: rs771914739
rs771914739 		1.000 0.080 15 40411258 splice acceptor variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2007
dbSNP: rs1001528
rs1001528 		15 40421575 intron variant A/G snv 0.45
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10518693
rs10518693 		15 40407823 intron variant C/T snv 0.37
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs10518693
rs10518693 		15 40407823 intron variant C/T snv 0.37
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11070270
rs11070270 		15 40416223 intron variant A/G snv 0.68 0.61
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013