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: rs1555975523
rs1555975523
5 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
dbSNP: rs398122845
rs398122845
2 1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 0.700 0