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: rs886042604
rs886042604
DMD
3 1.000 0.120 X 33020138 splice donor variant C/G;T snv 0.700 0