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: rs773724817
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 0.800 5 2003 2012
dbSNP: rs773724817
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 1999 2016