SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
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: rs121908321
rs121908321 		0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 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 2014 2014
dbSNP: rs561633150
rs561633150 		0.925 0.200 4 9980627 missense variant C/T snv 6.1E-04 9.1E-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 2016 2016
dbSNP: rs753482595
rs753482595 		0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-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 2016 2016