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: rs10020053
rs10020053
0.925 0.120 4 9820024 intron variant T/C snv 0.54
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10516196
rs10516196
0.925 0.120 4 10039341 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 1 2011 2011
dbSNP: rs10516197
rs10516197
0.925 0.120 4 10040476 intron variant C/T snv 9.5E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10939679
rs10939679
0.925 0.120 4 10054231 intron variant T/C snv 0.13
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10939681
rs10939681
0.925 0.120 4 10054340 intron variant A/C snv 0.13
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12499734
rs12499734
0.925 0.120 4 10050137 intron variant C/T snv 9.9E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12505366
rs12505366
0.925 0.120 4 9895896 intron variant C/A snv 3.0E-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: rs12642537
rs12642537
0.925 0.120 4 10035997 non coding transcript exon 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 1 2011 2011
dbSNP: rs12647883
rs12647883
0.925 0.120 4 9876840 intron variant G/C snv 2.7E-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: rs13106922
rs13106922
0.925 0.120 4 10020135 intron variant A/G snv 9.9E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs13122112
rs13122112
0.925 0.120 4 10019780 intron variant G/A snv 9.9E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs13128385
rs13128385
0.925 0.120 4 10017939 intron variant C/G snv 3.8E-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: rs13135351
rs13135351
0.925 0.120 4 10031901 intron variant G/A snv 8.6E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16889264
rs16889264
0.925 0.120 4 9833375 intron variant T/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 1 2013 2013
dbSNP: rs16889842
rs16889842
0.925 0.120 4 9870389 intron variant G/A snv 2.9E-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: rs16892475
rs16892475
0.925 0.120 4 10038649 intron variant A/C snv 1.0E-01
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16892493
rs16892493
0.925 0.120 4 10040023 intron variant C/T snv 9.5E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2139240
rs2139240
0.925 0.120 4 9796468 intron variant T/C snv 1.00
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3733589
rs3733589
0.925 0.120 4 9985700 synonymous variant G/A;T snv 8.9E-02 7.0E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3756231
rs3756231
0.925 0.120 4 10023920 intron variant A/G snv 7.3E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3775939
rs3775939
0.925 0.120 4 10023672 intron variant C/G snv 9.9E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3775941
rs3775941
0.925 0.120 4 10023469 intron variant T/A snv 9.9E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3796840
rs3796840
0.925 0.120 4 10006497 non coding transcript exon variant C/T snv 6.1E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4364264
rs4364264
0.925 0.120 4 9980059 intron variant C/T snv 6.3E-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: rs4637402
rs4637402
0.925 0.120 4 10043806 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 1 2010 2010