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: rs1553785033
rs1553785033
6 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
dbSNP: rs28934907
rs28934907
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs1057520700
rs1057520700
WAS
3 1.000 0.120 X 48685634 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs1553621496
rs1553621496
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs1567705064
rs1567705064
8 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0