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: 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: rs121434372
rs121434372 		1.000 0.120 19 12897818 missense variant G/A snv 1.1E-04 1.4E-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 14 1995 2016
dbSNP: rs121434367
rs121434367 		1.000 0.120 19 12899486 missense variant C/T snv 1.2E-04 2.7E-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 0.810 1.000 14 1991 2017
dbSNP: rs121434369
rs121434369 		1.000 0.120 19 12897824 missense variant C/T snv 3.2E-04 1.9E-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 0.810 1.000 14 1995 2017
dbSNP: rs1555749239
rs1555749239 		1.000 0.120 19 12891895 missense variant G/T snv
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 0.810 1.000 9 1995 2014
dbSNP: rs121434368
rs121434368 		0.925 0.120 19 12899471 missense variant C/T snv
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 0.810 1.000 8 1995 2014
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
dbSNP: rs150938052
rs150938052 		1.000 0.120 19 12897767 missense variant C/T snv 1.6E-05 7.0E-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 15 1995 2014
dbSNP: rs139851890
rs139851890 		1.000 0.120 19 12893564 missense variant C/G;T snv 1.6E-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 11 1995 2014
dbSNP: rs372983141
rs372983141 		1.000 0.120 19 12897788 missense variant G/C snv 1.2E-05 5.6E-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 10 1995 2014
dbSNP: rs778153326
rs778153326 		1.000 0.120 19 12897789 missense variant G/C;T 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 10 1995 2014
dbSNP: rs121434370
rs121434370 		1.000 0.120 19 12897713 missense variant G/A snv 2.8E-05 4.2E-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 8 1995 2014
dbSNP: rs121434366
rs121434366 		1.000 0.120 19 12896940 missense variant T/C snv
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 7 1995 2014
dbSNP: rs566417795
rs566417795 		1.000 0.120 19 12892125 missense variant G/A;T snv 1.2E-04; 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 7 1995 2014
dbSNP: rs779315456
rs779315456 		1.000 0.120 19 12896994 missense variant C/T snv 8.0E-06 2.1E-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 6 1998 2016
dbSNP: rs149120354
rs149120354 		1.000 0.120 19 12896058 missense variant T/C snv 8.0E-05 1.7E-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 0.800 1.000 4 1998 2018
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: 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: rs567564095
rs567564095 		1.000 0.120 19 12897764 missense variant G/A snv 4.0E-06 2.8E-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 0
dbSNP: rs141437721
rs141437721 		1.000 0.120 19 12897833 missense variant A/G snv 6.0E-05; 1.6E-05 1.7E-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 0.710 1.000 5 2007 2016
dbSNP: rs147611168
rs147611168 		1.000 0.120 19 12897860 stop gained G/A;T snv 4.4E-05 1.3E-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 0.710 1.000 4 1996 2009