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: rs137854609
rs137854609
SCN5A
0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 24 1995 2017
dbSNP: rs137854609
rs137854609
SCN5A
0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016