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: rs121907892
rs121907892
0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.040 1.000 4 2008 2019
dbSNP: rs121907896
rs121907896
0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2008 2019
dbSNP: rs763684449
rs763684449
0.925 0.200 11 64600799 missense variant C/A;T snv 9.4E-05
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1451506414
rs1451506414
0.882 0.200 11 64598561 synonymous variant G/A snv
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs773677616
rs773677616
1.000 0.200 11 64600770 missense variant G/A;C;T snv 4.9E-05
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2004 2004