Source: ALL

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: rs199473108
rs199473108
SCN5A
0.925 0.120 3 38606071 missense variant G/A;C;T snv 1.2E-05
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.010 1.000 1 2018 2018
dbSNP: rs199473339
rs199473339
SCN5A
0.925 0.120 3 38605953 stop gained C/A;T snv 6.3E-04 1.3E-04
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.010 1.000 1 2012 2012
dbSNP: rs79299226
rs79299226
SCN5A
0.851 0.120 3 38550898 missense variant A/G snv
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.010 1.000 1 2005 2005