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: rs181509591
rs181509591
1.000 0.160 4 9996817 missense variant G/A;C snv 1.4E-04; 2.4E-05
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 2008 2012
dbSNP: rs776127501
rs776127501
1.000 0.160 4 9985693 missense variant G/A snv 3.6E-05 2.1E-05
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 2008 2012
dbSNP: rs863225072
rs863225072
1.000 0.160 4 10019000 missense variant A/C snv 6.5E-06 2.8E-05
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 2008 2012
dbSNP: rs121908321
rs121908321
0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 4 2008 2014
dbSNP: rs121908322
rs121908322
1.000 0.160 4 9980681 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2008 2012
dbSNP: rs121908323
rs121908323
1.000 0.160 4 9887623 missense variant G/C snv 5.7E-06
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs775438172
rs775438172
1.000 0.160 4 9920443 stop gained C/T snv 3.6E-05 2.1E-05
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019