Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553212545 1.000 1 151406046 stop gained G/A snv 3
rs1553212626 1.000 1 151406151 frameshift variant -/A delins 3
rs1553212978 1.000 1 151406322 frameshift variant -/T delins 3
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1553270522 1.000 1 244054804 frameshift variant GATGA/- delins 3
rs1553352926 0.925 2 60545969 splice donor variant A/G snv 3
rs1553353206 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 3
rs1553479405 1.000 2 120989603 frameshift variant C/- del 3
rs1553521389 1.000 2 224503679 frameshift variant AG/- delins 3
rs1554109707 1.000 5 180613051 missense variant C/G;T snv 3
rs1554117456 1.000 5 37245569 stop gained C/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
rs1554708787 1.000 9 95506567 stop gained C/T snv 3
rs1554728529 1.000 9 136508989 frameshift variant A/- del 3
rs1554884733 1.000 8 99641974 frameshift variant -/GTCC delins 3
rs1554944527 1.000 11 687999 stop gained G/T snv 3
rs1555248020 1.000 12 116009052 stop gained G/C snv 3
rs1555254256 1.000 13 23354906 stop gained C/T snv 3
rs1555314736 1.000 14 21402335 splice donor variant C/T snv 3
rs1555377234 1.000 14 77025641 frameshift variant A/- delins 3
rs1555392032 1.000 15 38339805 frameshift variant -/A delins 3
rs1555401440 1.000 15 26561149 missense variant G/A snv 3
rs1555528558 1.000 16 89283207 frameshift variant -/T delins 3