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: rs199473054
rs199473054
SCN5A
1.000 0.080 3 38630420 missense variant C/G;T snv 2.0E-05; 2.8E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016