WDR1, WD repeat domain 1, 9948

N. diseases: 59; N. variants: 41
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: rs2241482
rs2241482
0.925 0.120 4 10098190 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: rs2241483
rs2241483
0.925 0.120 4 10098207 intron variant A/G 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 2 2010 2013
dbSNP: rs3756223
rs3756223
0.925 0.120 4 10104173 intron variant T/C snv 0.45
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: rs3775935
rs3775935
0.925 0.120 4 10076014 non coding transcript exon variant C/A snv 0.22
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: rs3796822
rs3796822
0.925 0.120 4 10092027 non coding transcript exon variant G/A;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: rs3822239
rs3822239
0.925 0.120 4 10093915 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 2 2010 2013
dbSNP: rs3822242
rs3822242
0.925 0.120 4 10093280 intron variant T/A;C;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: rs4459989
rs4459989
0.925 0.120 4 10110978 intron 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 2 2010 2013
dbSNP: rs4604059
rs4604059
0.925 0.120 4 10113441 intron variant T/C snv 0.48
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: rs4697917
rs4697917
0.925 0.120 4 10100336 intron variant T/G snv 0.65
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: rs4697922
rs4697922
0.925 0.120 4 10108981 intron variant T/C snv 0.66
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: rs717614
rs717614
0.925 0.120 4 10103164 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 2 2010 2013
dbSNP: rs717615
rs717615
0.925 0.120 4 10103046 intron variant A/G snv 0.45
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