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: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.840 1.000 0 1995 2017
dbSNP: rs137854600
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 7 1998 2010
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