GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
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: rs775606471
rs775606471 		1.000 0.120 19 12896938 missense variant G/A;C;T snv 1.2E-05
CUI: C4023058
Disease: Abnormality of acetylcarnitine metabolism
Abnormality of acetylcarnitine metabolism 		0.700 0
dbSNP: rs3115524
rs3115524 		19 12910545 intron variant G/A;C;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs11085824
rs11085824 		19 12890733 upstream gene variant A/G snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs11085825
rs11085825 		19 12896644 intron variant C/T snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17706531
rs17706531 		19 12904716 non coding transcript exon variant A/G snv 0.33 0.30
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2242517
rs2242517 		19 12891749 non coding transcript exon variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs741702
rs741702 		19 12913436 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9384
rs9384 		19 12899829 3 prime UTR variant G/T snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs121434368
rs121434368 		0.925 0.120 19 12899471 missense variant C/T snv
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004
dbSNP: rs1277384196
rs1277384196 		0.925 0.120 19 12899507 missense variant T/C snv 4.0E-06
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004
dbSNP: rs1568427678
rs1568427678 		0.882 0.160 19 12896243 missense variant G/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs786205861
rs786205861 		1.000 0.120 19 12896913 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs11085824
rs11085824 		19 12890733 upstream gene variant A/G snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs11085825
rs11085825 		19 12896644 intron variant C/T snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs56397034
rs56397034 		19 12889736 upstream gene variant G/C snv 0.39
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs741702
rs741702 		19 12913436 intron variant A/C;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs8012
rs8012 		19 12899706 3 prime UTR variant A/G snv 0.61 0.64
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs1568427678
rs1568427678 		0.882 0.160 19 12896243 missense variant G/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs764774411
rs764774411 		0.925 0.120 19 12896052 missense variant G/C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121434373
rs121434373 		1.000 0.120 19 12896249 missense variant G/A;C snv 1.6E-05; 1.8E-04
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 24 1995 2020
dbSNP: rs142967670
rs142967670 		1.000 0.120 19 12891965 missense variant C/A;T snv 4.0E-06; 4.8E-05
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 21 1995 2017
dbSNP: rs121434371
rs121434371 		1.000 0.120 19 12896934 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1995 2014
dbSNP: rs777201305
rs777201305 		1.000 0.120 19 12893630 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1995 2018
dbSNP: rs781477694
rs781477694 		1.000 0.120 19 12897409 missense variant C/T snv 4.0E-06; 3.2E-05 3.5E-05
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1995 2019
dbSNP: rs786204626
rs786204626 		1.000 0.120 19 12897825 missense variant G/A snv 4.0E-06
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1995 2017