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: rs104894718
rs104894718
SCN1B
0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.700 1.000 6 1970 2019