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: rs1553698563
rs1553698563
SCN5A
1 1.000 0.120 3 38575452 splice acceptor variant C/G snv 0.700 0