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: rs137854600
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C3276241
Disease: LONG QT SYNDROME 3/6, DIGENIC Disorder
LONG QT SYNDROME 3/6, DIGENIC Disorder 		0.700 0
dbSNP: rs16991654
rs16991654
KCNE2 ; LOC105372791
0.925 0.120 21 34370656 missense variant T/A;C snv 4.0E-06
CUI: C3276241
Disease: LONG QT SYNDROME 3/6, DIGENIC Disorder
LONG QT SYNDROME 3/6, DIGENIC Disorder 		0.700 0