Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555902810 1.000 22 35781685 frameshift variant -/A delins 4
rs886041185 0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs1554122458 6 33444450 frameshift variant -/A delins 2
rs1554777375 9 127665304 frameshift variant -/A delins 2
rs782061187 1.000 9 133351945 frameshift variant -/A delins 4.0E-06 2
rs1131691712 19 13286952 frameshift variant -/A delins 4.2E-06 1
rs1555801872 19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 2
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1554314738 6 112069431 frameshift variant -/C delins 1
rs1554236054 1.000 6 157201481 frameshift variant -/G delins 3
rs1553732126 3 123347875 frameshift variant -/G delins 2
rs1555851216 20 45967790 frameshift variant -/G delins 1
rs1555732987 19 35732782 frameshift variant -/GCACGCCTCCTTCGGGGCCAGG delins 1
rs1554884733 1.000 8 99641974 frameshift variant -/GTCC delins 3
rs1156904586 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1555923822 1.000 22 42210236 frameshift variant -/T delins 3
rs1554820931 9 132328198 frameshift variant -/T delins 1
rs1554129039 1.000 5 140114334 frameshift variant A/- del 3
rs1555046615 1.000 11 118503389 frameshift variant A/- del 3
rs1554260888 1.000 6 133456594 frameshift variant A/- del 2
rs1456336365 5 149898502 frameshift variant A/- delins 7.0E-06 1
rs1554822175 9 132331387 frameshift variant A/- delins 1
rs762093523 8 95045546 frameshift variant A/-;AA delins 4.0E-06 1
rs746882521 0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30