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: rs505802
rs505802 		0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 3 2009 2019
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: 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: rs505802
rs505802 		0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.710 1.000 3 2010 2015
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: 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: rs3825016
rs3825016 		0.882 0.160 11 64591814 synonymous variant C/T 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: rs3825016
rs3825016 		0.882 0.160 11 64591814 synonymous variant C/T 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: rs3825018
rs3825018 		0.925 0.120 11 64591337 5 prime UTR variant G/A 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: rs3825018
rs3825018 		0.925 0.120 11 64591337 5 prime UTR variant G/A 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: rs475688
rs475688 		0.882 0.160 11 64596819 intron variant C/T snv 0.25
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: rs475688
rs475688 		0.882 0.160 11 64596819 intron variant C/T snv 0.25
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: rs505802
rs505802 		0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45
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: rs524023
rs524023 		0.925 0.120 11 64590793 5 prime UTR variant C/G;T snv
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: rs524023
rs524023 		0.925 0.120 11 64590793 5 prime UTR variant C/G;T snv
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: rs893006
rs893006 		0.882 0.160 11 64598324 intron variant C/A snv 0.61
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