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: rs104894790
rs104894790
DMD
1 0.925 0.160 X 31178751 stop gained G/A snv 0.010 1.000 1 2012 2012