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: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs28934907
rs28934907
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
dbSNP: rs61749715
rs61749715
8 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
dbSNP: rs61748411
rs61748411
3 0.925 0.120 X 154031356 missense variant T/C snv 0.010 1.000 1 2011 2011