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: rs794728565
rs794728565
KCNQ1
0.882 0.120 11 2527943 frameshift variant G/- delins
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs794728565
rs794728565
KCNQ1
0.882 0.120 11 2527943 frameshift variant G/- delins
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs794728565
rs794728565
KCNQ1
0.882 0.120 11 2527943 frameshift variant G/- delins
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 1 2009 2009