Source: UNIPROT

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: rs137854606
rs137854606
SCN5A
0.882 0.120 3 38604062 missense variant C/A snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 20 1998 2016
dbSNP: rs137854606
rs137854606
SCN5A
0.882 0.120 3 38604062 missense variant C/A snv
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.700 1.000 6 2001 2013