Source: CLINVAR

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: rs794728537
rs794728537
KCNQ1
0.925 0.120 11 2778023 stop gained C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1999 2014
dbSNP: rs794728537
rs794728537
KCNQ1
0.925 0.120 11 2778023 stop gained C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs794728537
rs794728537
KCNQ1
0.925 0.120 11 2778023 stop gained C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 0