Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs138659167 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs397518483 0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs1057519430 0.925 X 41346946 missense variant C/T snv 5
rs587783685 0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546 0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs869025340 0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs1057521083 0.925 0.200 2 199348709 missense variant G/A snv 4
rs1554200990 1.000 6 121446960 missense variant G/C snv 4
rs1554599036 1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810 1.000 22 35781685 frameshift variant -/A delins 4
rs1557082399 1.000 X 77593803 stop gained C/T snv 4
rs80338677 0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs886041877 1.000 10 87894025 missense variant A/C;G snv 4
rs1350201776 20 45952244 missense variant C/T snv 4.0E-06 3
rs1554139771 5 88804732 stop gained CA/- delins 3
rs1554236054 1.000 6 157201481 frameshift variant -/G delins 3
rs1555046615 1.000 11 118503389 frameshift variant A/- del 3
rs1555535739 1.000 16 67626653 stop gained C/T snv 3
rs1555977248 1.000 X 41542781 stop gained T/A snv 3
rs886041166 1.000 8 60742366 stop gained C/T snv 3
rs917027829 1.000 5 150069942 stop gained G/A;T snv 4.0E-06 3
rs1553182964 1 61404170 frameshift variant ACTT/- delins 2
rs1553631783 3 41233416 frameshift variant G/- delins 2