Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperuricemia
CUI: C0740394
Disease: Hyperuricemia
76 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.700 1.000 1 2018 2018
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.800 1.000 4 2011 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.010 1.000 1 2005 2005
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
1463 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.700 1.000 1 2018 2018