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: rs2231142
rs2231142 		0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.820 1.000 12 2008 2019
dbSNP: rs2231142
rs2231142 		0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.810 1.000 11 2008 2019
dbSNP: rs2231142
rs2231142 		0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 14 2008 2019
dbSNP: rs2231142
rs2231142 		0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.800 1.000 10 2010 2019
dbSNP: rs4148155
rs4148155 		0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 5 2010 2019
dbSNP: rs4148155
rs4148155 		0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 5 2010 2019
dbSNP: rs10011796
rs10011796 		0.882 0.160 4 88169725 intron variant T/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2015
dbSNP: rs10011796
rs10011796 		0.882 0.160 4 88169725 intron variant T/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2015
dbSNP: rs3114020
rs3114020 		0.882 0.200 4 88162514 intron variant T/C snv 0.40
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs3114020
rs3114020 		0.882 0.200 4 88162514 intron variant T/C snv 0.40
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs4148155
rs4148155 		0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 4 2009 2019
dbSNP: rs1481012
rs1481012 		0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2010 2013
dbSNP: rs1481012
rs1481012 		0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2010 2013
dbSNP: rs1481012
rs1481012 		0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 3 2009 2019
dbSNP: rs2054576
rs2054576 		0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 3 2009 2019
dbSNP: rs3114018
rs3114018 		0.882 0.160 4 88143429 intron variant A/C snv 0.48
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 3 2009 2018
dbSNP: rs10011796
rs10011796 		0.882 0.160 4 88169725 intron variant T/C;G snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2015
dbSNP: rs3114018
rs3114018 		0.882 0.160 4 88143429 intron variant A/C snv 0.48
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs2199936
rs2199936 		0.882 0.160 4 88124179 intron variant A/G;T snv 0.88
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 4 2010 2019
dbSNP: rs10009618
rs10009618 		0.925 0.120 4 88172856 intron variant C/T snv 0.58
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs10009618
rs10009618 		0.925 0.120 4 88172856 intron variant C/T snv 0.58
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs12505410
rs12505410 		0.925 0.120 4 88109689 intron variant T/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs12505410
rs12505410 		0.925 0.120 4 88109689 intron variant T/C;G 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 3 2010 2013
dbSNP: rs13120400
rs13120400 		0.925 0.120 4 88112375 intron variant T/C snv 0.21
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs13120400
rs13120400 		0.925 0.120 4 88112375 intron variant T/C snv 0.21
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013