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: rs199473133
rs199473133
SCN5A
0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.710 1.000 24 1995 2017
dbSNP: rs199473133
rs199473133
SCN5A
0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016