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: rs1553827236
rs1553827236
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs386833760
rs386833760
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0