SLC17A1, solute carrier family 17 member 1, 6568

N. diseases: 23; N. variants: 164
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: rs10946798
rs10946798 		0.925 0.120 6 25781625 downstream gene variant T/A;G 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: rs10946798
rs10946798 		0.925 0.120 6 25781625 downstream gene variant T/A;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 2 2010 2013
dbSNP: rs1165151
rs1165151 		0.925 0.120 6 25821388 intron variant T/A;G snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2013
dbSNP: rs1165151
rs1165151 		0.925 0.120 6 25821388 intron variant T/A;G 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: rs1165151
rs1165151 		0.925 0.120 6 25821388 intron variant T/A;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 2 2010 2013
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/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: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/C;G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2015
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/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: rs1165153
rs1165153 		0.925 0.120 6 25817561 intron variant A/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: rs1165153
rs1165153 		0.925 0.120 6 25817561 intron variant A/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: rs1185567
rs1185567 		0.925 0.120 6 25818360 intron variant A/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: rs1185567
rs1185567 		0.925 0.120 6 25818360 intron variant A/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: rs12215823
rs12215823 		0.925 0.120 6 25725846 upstream gene variant G/C;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: rs12215823
rs12215823 		0.925 0.120 6 25725846 upstream gene variant G/C;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: rs765285
rs765285 		0.925 0.120 6 25828014 intron variant G/C;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: rs765285
rs765285 		0.925 0.120 6 25828014 intron variant G/C;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: rs9461210
rs9461210 		0.925 0.120 6 25733845 upstream gene variant A/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: rs9461210
rs9461210 		0.925 0.120 6 25733845 upstream gene variant A/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: rs1165151
rs1165151 		0.925 0.120 6 25821388 intron variant T/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/C;G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165153
rs1165153 		0.925 0.120 6 25817561 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165153
rs1165153 		0.925 0.120 6 25817561 intron variant A/G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2009 2009
dbSNP: rs1165155
rs1165155 		0.925 0.120 6 25795349 intron variant A/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: rs1165155
rs1165155 		0.925 0.120 6 25795349 intron variant A/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: rs1165181
rs1165181 		0.925 0.120 6 25825162 intron variant T/A;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 1 2013 2013