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: rs398123973
rs398123973
DMD
2 0.925 0.160 X 32365049 stop gained G/A;T snv 5.5E-06 0.700 1.000 6 2001 2011