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: rs199473411
rs199473411
KCNQ1
0.882 0.120 11 2585275 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 20 1996 2015
dbSNP: rs199473411
rs199473411
KCNQ1
0.882 0.120 11 2585275 missense variant C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 11 1997 2015
dbSNP: rs199473411
rs199473411
KCNQ1
0.882 0.120 11 2585275 missense variant C/A;T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 9 1997 2014