Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553156053 1.000 1 42929652 stop gained G/A snv 3
rs1553212545 1.000 1 151406046 stop gained G/A snv 3
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1553270522 1.000 1 244054804 frameshift variant GATGA/- delins 3
rs1553666546 1.000 0.080 3 4645609 missense variant G/A snv 3
rs1554122252 1.000 6 33443341 frameshift variant CT/- delins 3
rs1554129039 1.000 5 140114334 frameshift variant A/- del 3
rs1554139771 5 88804732 stop gained CA/- delins 3
rs1554236054 1.000 6 157201481 frameshift variant -/G delins 3
rs1554884733 1.000 8 99641974 frameshift variant -/GTCC delins 3
rs1555046615 1.000 11 118503389 frameshift variant A/- del 3
rs1555050165 0.925 0.200 11 105926814 missense variant A/G snv 3
rs1555254256 1.000 13 23354906 stop gained C/T snv 3
rs1555401440 1.000 15 26561149 missense variant G/A snv 3
rs1555535739 1.000 16 67626653 stop gained C/T snv 3
rs1555682938 1.000 18 62102822 frameshift variant T/- delins 3
rs1555869758 1.000 0.040 20 63438654 missense variant T/C snv 3
rs1555912285 1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs1555923822 1.000 22 42210236 frameshift variant -/T delins 3
rs1555937168 1.000 0.080 X 71224099 frameshift variant TG/- delins 3
rs1555977248 1.000 X 41542781 stop gained T/A snv 3
rs397514655 1.000 5 88804743 missense variant A/G;T snv 3
rs397517076
CBL
0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 3
rs587777429 1.000 0.120 19 6496032 missense variant C/A;T snv 3
rs797044850 1.000 0.080 2 32127017 missense variant A/G snv 3