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: rs199473157
rs199473157
SCN5A
0.925 0.120 3 38587522 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473157
rs199473157
SCN5A
0.925 0.120 3 38587522 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 20 1998 2016