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: rs1047976958
rs1047976958 		1.000 0.200 11 64599701 missense variant G/A;C snv 1.2E-05; 8.1E-06
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 2002 2015
dbSNP: rs10897518
rs10897518 		0.925 0.120 11 64593233 intron variant C/T snv 0.51
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2015
dbSNP: rs10897518
rs10897518 		0.925 0.120 11 64593233 intron variant C/T snv 0.51
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs10897518
rs10897518 		0.925 0.120 11 64593233 intron variant C/T snv 0.51
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs11231825
rs11231825 		0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs11231825
rs11231825 		0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs11231825
rs11231825 		0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs11231825
rs11231825 		0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11231825
rs11231825 		0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11602903
rs11602903 		0.882 0.120 11 64590769 5 prime UTR variant A/T snv 0.51
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11602903
rs11602903 		0.882 0.120 11 64590769 5 prime UTR variant A/T snv 0.51
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs11602903
rs11602903 		0.882 0.120 11 64590769 5 prime UTR variant A/T snv 0.51
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.750 1.000 12 2002 2016
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.040 1.000 4 2008 2019
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2006 2011
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2006 2011
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2006 2007
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C3160858
Disease: Posterior reversible encephalopathy syndrome
Posterior reversible encephalopathy syndrome 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs121907892
rs121907892 		0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs121907893
rs121907893 		1.000 0.200 11 64593548 missense variant C/G;T snv 4.8E-05
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs121907894
rs121907894 		1.000 0.200 11 64598579 missense variant G/A;T snv 8.4E-06
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs121907895
rs121907895 		0.925 0.200 11 64599858 missense variant T/C;G snv 4.0E-06; 8.1E-06
CUI: C4551590
Disease: Familial renal hypouricemia
Familial renal hypouricemia 		0.010 1.000 1 2005 2005
dbSNP: rs121907895
rs121907895 		0.925 0.200 11 64599858 missense variant T/C;G snv 4.0E-06; 8.1E-06
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs121907896
rs121907896 		0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 10 2004 2016