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: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.800 1.000 10 2010 2019
dbSNP: rs199897813
rs199897813
1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs2054576
rs2054576
0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs72552713
rs72552713
0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018