HADH, hydroxyacyl-CoA dehydrogenase, 3033

N. diseases: 72; N. variants: 8
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: rs137853103
rs137853103 		1.000 0.040 4 108033239 missense variant C/T snv
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		Nutritional and Metabolic Diseases 0.800 1.000 1 2001 2001
dbSNP: rs137853101
rs137853101 		1.000 0.080 4 107990050 missense variant G/A snv
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853102
rs137853102 		1.000 0.080 4 108009797 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs146036912
rs146036912 		0.925 0.080 4 108027727 missense variant T/C snv 6.8E-05 9.8E-05
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs146036912
rs146036912 		0.925 0.080 4 108027727 missense variant T/C snv 6.8E-05 9.8E-05
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs146732064
rs146732064 		4 108014518 missense variant G/C;T snv 3.0E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs375717077
rs375717077 		1.000 0.040 4 108027757 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs786200932
rs786200932 		1.000 0.040 4 108024034 3 prime UTR variant G/A;T snv
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs221330
rs221330 		1.000 0.080 4 108000211 intron variant G/A snv 0.24
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006