Gene: SCN5A ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854601
rs137854601
SCN5A
6 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 1999 2014
dbSNP: rs794728879
rs794728879
SCN5A
2 0.925 0.120 3 38560146 splice donor variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs794728846
rs794728846
SCN5A
2 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0