Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
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
rs1553238271 1.000 1 7661827 stop gained C/T snv 2
rs1553249737 1.000 1 165743263 stop gained G/T snv 4
rs1553255354 1.000 1 229431843 missense variant C/G snv 2
rs1553259463 1.000 1 113901815 stop gained GACAT/- delins 2
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
rs1553544102 1.000 2 199308769 frameshift variant TC/- delins 2
rs1553583712 1.000 2 165354339 frameshift variant GA/- del 2
rs1553629086 1.000 2 196201282 missense variant C/T snv 2
rs1553630221 1.000 3 30672234 missense variant G/C snv 2
rs1553631770 1.000 3 41233398 missense variant A/T snv 4
rs1553666033 1.000 3 25783352 frameshift variant C/- del 2
rs1553690452 1.000 3 11028845 stop gained C/T snv 2
rs1553693712 1.000 3 9734167 frameshift variant TT/- delins 2
rs1553704696 1.000 2 229859313 frameshift variant T/- delins 2
rs1553749681 0.925 3 51064514 stop gained C/T snv 4
rs1553810244 1.000 3 177038369 missense variant T/A snv 2