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: rs199473282
rs199473282
SCN5A
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 21 1998 2016
dbSNP: rs199473282
rs199473282
SCN5A
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473282
rs199473282
SCN5A
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.700 1.000 6 2001 2013