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: rs12720452
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs12720452
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0