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: rs120074190
rs120074190
KCNQ1
0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 9 1999 2017