Source: CLINVAR

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: rs199473565
rs199473565
SCN5A
0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 0 1998 2017
dbSNP: rs199473565
rs199473565
SCN5A
0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2005 2015