Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 4 2011 2017
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018