ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
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: rs104893944
rs104893944 		6 131576666 stop gained C/G;T snv 4.0E-06; 6.0E-05
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 2 1999 2012
dbSNP: rs755359126
rs755359126 		6 131583831 missense variant G/A;C snv 4.0E-05
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs140549609
rs140549609 		6 131581296 missense variant A/G snv 3.2E-05 2.8E-05
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 1994 2016
dbSNP: rs1064794165
rs1064794165 		6 131582620 splice acceptor variant G/C snv 2.8E-05 7.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1995 2015
dbSNP: rs104893940
rs104893940 		6 131583810 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1992 2016
dbSNP: rs104893948
rs104893948 		6 131583392 missense variant G/A;C snv 2.0E-05; 8.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 1992 2016
dbSNP: rs587776539
rs587776539 		6 131573340 splice donor variant G/A snv 8.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1995 1995
dbSNP: rs104893947
rs104893947 		6 131581278 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs776939220
rs776939220 		6 131581284 frameshift variant -/T delins 8.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs747579073
rs747579073 		6 131583476 stop gained G/A;T snv 8.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28941474
rs28941474 		6 131573314 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 5 1992 2018
dbSNP: rs104893943
rs104893943 		6 131581326 missense variant G/T snv 7.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 4 1992 2013
dbSNP: rs2781666
rs2781666 		0.790 0.280 6 131572419 intron variant G/T snv 0.45
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2014 2018
dbSNP: rs2781666
rs2781666 		0.790 0.280 6 131572419 intron variant G/T snv 0.45
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2007 2010
dbSNP: rs9375818
rs9375818 		6 131560938 intron variant G/A snv 0.27
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs10484766
rs10484766 		6 131578846 intron variant C/T snv 3.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10484766
rs10484766 		6 131578846 intron variant C/T snv 3.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10484766
rs10484766 		6 131578846 intron variant C/T snv 3.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10484766
rs10484766 		6 131578846 intron variant C/T snv 3.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11442179
rs11442179 		6 131553246 intron variant -/C delins 0.33
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs143633948
rs143633948 		0.882 0.080 6 131504454 intron variant G/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.700 1.000 1 2016 2016
dbSNP: rs143633948
rs143633948 		0.882 0.080 6 131504454 intron variant G/A;C snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2016 2016
dbSNP: rs143633948
rs143633948 		0.882 0.080 6 131504454 intron variant G/A;C snv
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.700 1.000 1 2016 2016
dbSNP: rs143633948
rs143633948 		0.882 0.080 6 131504454 intron variant G/A;C snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2016 2016
dbSNP: rs143633948
rs143633948 		0.882 0.080 6 131504454 intron variant G/A;C snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016