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: rs267608327
rs267608327
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs28935468
rs28935468
14 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs61750240
rs61750240
17 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0