Source: ALL
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: 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