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: rs199472904
rs199472904
KCNH2
0.925 0.160 7 150952595 missense variant A/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs199472904
rs199472904
KCNH2
0.925 0.160 7 150952595 missense variant A/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2018 2018