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: rs1237955948
rs1237955948
2 1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs1429442821
rs1429442821
2 1.000 0.120 21 42380116 splice donor variant C/T snv 0.700 0