PDZK1, PDZ domain containing 1, 5174

N. diseases: 47; N. variants: 8
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: rs12129861
rs12129861 		0.925 0.120 1 145709377 upstream gene variant C/T snv 0.43
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 1 2009 2009
dbSNP: rs1797052
rs1797052 		1 145707383 5 prime UTR variant A/G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2018 2019
dbSNP: rs12129861
rs12129861 		0.925 0.120 1 145709377 upstream gene variant C/T snv 0.43
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12129861
rs12129861 		0.925 0.120 1 145709377 upstream gene variant C/T snv 0.43
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1298954
rs1298954 		0.925 0.120 1 145704906 intron variant C/T snv 0.44
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1298954
rs1298954 		0.925 0.120 1 145704906 intron variant C/T snv 0.44
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1797052
rs1797052 		1 145707383 5 prime UTR variant A/G;T snv
CUI: C0009928
Disease: Contrast Sensitivity
Contrast Sensitivity 		0.700 1.000 1 2014 2014
dbSNP: rs74119445
rs74119445 		1 145709649 upstream gene variant G/A snv 3.3E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs882210
rs882210 		0.925 0.120 1 145702119 intron variant C/G snv 4.8E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs882210
rs882210 		0.925 0.120 1 145702119 intron variant C/G snv 4.8E-02
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs900347
rs900347 		0.925 0.120 1 145708339 upstream gene 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 1 2013 2013
dbSNP: rs900347
rs900347 		0.925 0.120 1 145708339 upstream gene 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 1 2013 2013
dbSNP: rs9659930
rs9659930 		0.925 0.120 1 145704365 intron variant C/G snv 0.18
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9659930
rs9659930 		0.925 0.120 1 145704365 intron variant C/G snv 0.18
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9728619
rs9728619 		0.925 0.120 1 145698627 intron variant A/G snv 0.51
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2009 2009
dbSNP: rs9728619
rs9728619 		0.925 0.120 1 145698627 intron variant A/G 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 1 2013 2013
dbSNP: rs9728619
rs9728619 		0.925 0.120 1 145698627 intron variant A/G 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 1 2013 2013