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: 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: 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: 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: 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: 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
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: 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: 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: rs776082304
rs776082304 		1.000 0.120 19 12897859 stop gained C/A;G;T snv 4.0E-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 0.700 1.000 5 1995 2010
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: 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: rs1555751995
rs1555751995 		1.000 0.120 19 12899541 stop lost A/G 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 2 2000 2010
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: rs17706531
rs17706531 		19 12904716 non coding transcript exon variant A/G snv 0.33 0.30
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2965214
rs2965214 		19 12918374 intron variant G/A snv 0.66 0.64
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009