Source: BEFREE

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: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 3 2001 2013
dbSNP: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.010 1.000 1 2007 2007
dbSNP: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.010 1.000 1 2007 2007