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: rs886044502
rs886044502
DMD
1 1.000 0.040 X 31180483 splice acceptor variant T/G snv 0.700 1.000 4 2006 2016