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: rs199473293
rs199473293
SCN5A
0.925 0.120 3 38551373 missense variant C/G;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 20 1998 2016
dbSNP: rs199473293
rs199473293
SCN5A
0.925 0.120 3 38551373 missense variant C/G;T snv 4.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015