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: rs398123909
rs398123909
DMD
3 0.882 0.160 X 32472310 splice acceptor variant C/A;T snv 0.700 1.000 1 2013 2013