Source: CLINVAR

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: rs794728399
rs794728399
KCNH2
1.000 0.120 7 150947791 stop gained C/A;G;T snv 6.8E-05; 7.6E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 2009 2012