Disease: Renal hypouricemia ×
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: 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
dbSNP: rs765990518
rs765990518 		1.000 0.200 11 64599750 missense variant A/T snv 1.2E-04 4.9E-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 1.000 7 2002 2015
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: 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: 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: 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: rs201181059
rs201181059 		1.000 0.200 11 64592866 missense variant G/A snv 1.0E-04 4.2E-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 0.700 1.000 7 2002 2015
dbSNP: rs121907897
rs121907897 		1.000 0.200 11 64599687 missense variant G/T snv
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 0
dbSNP: rs149722479
rs149722479 		0.925 0.200 11 64592788 missense variant G/A;C snv 4.8E-05; 9.6E-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 0.700 0
dbSNP: rs773677616
rs773677616 		1.000 0.200 11 64600770 missense variant G/A;C;T snv 4.9E-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 0.700 0
dbSNP: rs1451506414
rs1451506414 		0.882 0.200 11 64598561 synonymous variant G/A snv
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 0.020 1.000 2 2008 2011
dbSNP: rs200104135
rs200104135 		1.000 0.200 11 64600740 missense variant C/A;T snv 4.1E-06; 1.2E-03
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 0.020 1.000 2 2018 2018
dbSNP: rs1421770132
rs1421770132 		1.000 0.200 11 64598847 stop gained C/T snv 8.0E-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 0.010 1.000 1 2005 2005
dbSNP: rs763684449
rs763684449 		0.925 0.200 11 64600799 missense variant C/A;T snv 9.4E-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 0.010 1.000 1 2014 2014