Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs1553622530 2 214781220 stop gained C/T snv 1
rs1131692162 17 43099781 stop gained C/A snv 1
rs1555582520 17 43076486 splice donor variant A/G snv 1
rs397508979 17 43092974 frameshift variant -/GAAAAGTGAA ins 1
rs886037788 17 43091461 frameshift variant -/TCAA ins 1
rs886037789 17 43071159 frameshift variant T/- del 1
rs1555280073 13 32316454 start lost TAAAAATGCCTATTGG/- delins 1
rs1555284442 13 32340234 frameshift variant G/- del 1
rs398122710 13 32371100 missense variant G/A snv 1
rs886037797 13 32332667 frameshift variant AACTAACC/- delins 1
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 1
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 1
rs1555114766 11 108317486 stop gained G/A snv 1
rs1555913881 22 28695841 frameshift variant T/- del 1
rs587780170 0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 1
rs786202676 22 28696956 missense variant T/A;G snv 1
rs1131692241 17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 1
rs1057519857 0.882 0.080 17 39724772 missense variant T/C snv 1
rs758222990 1.000 0.080 17 39725363 missense variant C/G;T snv 1.2E-05 1
rs1057519714 6 152094402 missense variant T/C snv 1
rs1057519715 1.000 0.080 6 152098779 missense variant T/A snv 1
rs1057519716 6 152098782 missense variant C/A snv 1
rs1057519717 6 152098785 missense variant T/G snv 1
rs1057519827 6 152011697 missense variant G/C snv 1