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: rs1557055311
rs1557055311
5 0.882 0.200 X 153743220 splice acceptor variant G/A;C snv 0.700 0