SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
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: rs1014290
rs1014290
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.810 1.000 6 2010 2019
dbSNP: rs3775948
rs3775948
0.882 0.160 4 9993558 intron variant G/A;C 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 2016
dbSNP: rs734553
rs734553
0.851 0.240 4 9921380 intron variant G/A;T 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 2013
dbSNP: rs13129697
rs13129697
0.925 0.120 4 9925343 intron variant T/G snv 0.39
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: rs4475146
rs4475146
0.925 0.120 4 9945032 intron variant C/A snv 0.29
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: rs16890979
rs16890979
0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.710 1.000 5 2008 2016
dbSNP: rs7442295
rs7442295
0.925 0.120 4 9964756 intron variant A/G snv 0.28
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 5 2008 2013
dbSNP: rs6855911
rs6855911
0.851 0.200 4 9934286 intron variant A/G snv 0.33
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 4 2007 2013
dbSNP: rs737267
rs737267
0.851 0.240 4 9933120 intron variant G/A;T snv
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 4 2008 2013
dbSNP: rs10003001
rs10003001
0.925 0.120 4 9982851 intron variant C/T 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
dbSNP: rs10006397
rs10006397
0.925 0.120 4 10034516 non coding transcript exon variant C/A snv 0.78
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: rs10022499
rs10022499
0.925 0.120 4 10004913 intron variant C/A snv 0.72
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: rs10023068
rs10023068
0.925 0.120 4 10003208 intron variant A/G snv 0.72
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: rs10033612
rs10033612
0.925 0.120 4 9983382 intron variant C/T snv 0.20
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: rs1071988
rs1071988
0.925 0.120 4 9973014 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 3 2010 2013
dbSNP: rs1079128
rs1079128
0.925 0.120 4 9949597 intron variant T/C 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 3 2010 2013
dbSNP: rs10805346
rs10805346
0.925 0.120 4 9918723 intron variant T/C 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 3 2010 2013
dbSNP: rs10939650
rs10939650
0.925 0.120 4 9996816 synonymous variant C/G;T snv 1.2E-05; 0.70
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: rs10939665
rs10939665
0.925 0.120 4 10036004 non coding transcript exon variant T/C 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 3 2010 2013
dbSNP: rs10939669
rs10939669
0.925 0.120 4 10044203 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 3 2010 2013
dbSNP: rs1122141
rs1122141
0.925 0.120 4 9945654 intron variant T/C snv 0.57
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: rs11722228
rs11722228
0.851 0.160 4 9914117 intron variant C/T snv 0.32
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: rs11722229
rs11722229
0.925 0.120 4 9979073 intron variant C/A;T 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: rs11722930
rs11722930
0.925 0.120 4 10033830 intron variant G/A;C 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: rs11723439
rs11723439
0.925 0.120 4 9950195 intron variant C/T snv 0.17
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