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: rs1165196
rs1165196
0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.800 1.000 4 2009 2018
dbSNP: rs1165176
rs1165176
0.925 0.120 6 25830070 intron variant A/G snv 0.65
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2010 2017
dbSNP: rs1165176
rs1165176
0.925 0.120 6 25830070 intron variant A/G snv 0.65
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 2017
dbSNP: rs1183201
rs1183201
0.925 0.120 6 25823216 intron variant A/T snv 0.65
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: rs13200784
rs13200784
0.925 0.120 6 25829405 intron variant A/T snv 0.27
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: rs13200784
rs13200784
0.925 0.120 6 25829405 intron variant A/T snv 0.27
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: rs1408268
rs1408268
0.925 0.120 6 25826758 intron variant T/A snv 0.26
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: rs1408268
rs1408268
0.925 0.120 6 25826758 intron variant T/A snv 0.26
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: rs2762353
rs2762353
0.882 0.200 6 25794203 intron variant A/G snv 0.66
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.800 1.000 3 2009 2019
dbSNP: rs6456703
rs6456703
0.925 0.120 6 25825891 intron variant C/T snv 0.26
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: rs6456703
rs6456703
0.925 0.120 6 25825891 intron variant C/T snv 0.26
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: rs10214468
rs10214468
0.925 0.120 6 25789162 intron variant T/A snv 0.19
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: rs10214468
rs10214468
0.925 0.120 6 25789162 intron variant T/A snv 0.19
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: rs10498728
rs10498728
0.925 0.120 6 25751092 upstream gene variant T/A 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 2 2010 2013
dbSNP: rs10498728
rs10498728
0.925 0.120 6 25751092 upstream gene variant T/A 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 2 2010 2013
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