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: rs1282266790
rs1282266790 		1.000 0.120 19 12897794 missense variant A/G 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 0.700 1.000 7 1995 2014
dbSNP: rs151201155
rs151201155 		1.000 0.120 19 12899485 missense variant G/A snv 2.0E-04 6.0E-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 0.700 1.000 7 1995 2014
dbSNP: rs1555751379
rs1555751379 		1.000 0.120 19 12897840 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 0.700 1.000 7 1995 2014
dbSNP: rs764608975
rs764608975 		1.000 0.120 19 12897768 missense variant G/A snv 1.6E-05 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 0.700 1.000 7 1995 2014
dbSNP: rs745360675
rs745360675 		1.000 0.120 19 12899510 missense variant C/T snv 8.0E-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 0.700 1.000 3 1998 2014
dbSNP: rs754002357
rs754002357 		1.000 0.120 19 12897787 frameshift variant G/-;GG delins 8.0E-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 0.700 1.000 3 1996 2015
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: 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: rs8012
rs8012 		19 12899706 3 prime UTR variant A/G snv 0.61 0.64
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
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: 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: 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: rs752127949
rs752127949 		1.000 0.120 19 12897776 stop gained C/G;T snv 1.6E-05; 8.0E-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 0.700 1.000 5 1996 2017
dbSNP: rs3115524
rs3115524 		19 12910545 intron variant G/A;C;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs199999619
rs199999619 		1.000 0.120 19 12899466 splice acceptor variant A/C;G snv 8.8E-05 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 0.700 1.000 8 2000 2019
dbSNP: rs398123190
rs398123190 		1.000 0.120 19 12897777 missense variant G/A;C snv 8.0E-06; 1.2E-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 0.700 1.000 4 2000 2019
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