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: rs199472696
rs199472696
KCNQ1
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 1997 2013
dbSNP: rs199472696
rs199472696
KCNQ1
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.700 1.000 6 1997 2013
dbSNP: rs199472696
rs199472696
KCNQ1
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 0