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: rs199473175
rs199473175
SCN5A
1.000 0.080 3 38585749 stop gained G/A;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 20 1998 2016