UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
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: rs143583842
rs143583842
1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs28934583
rs28934583
0.925 0.240 16 20348652 missense variant A/C;G snv
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019