Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs281865138 1.000 0.080 10 62813492 missense variant A/C snv 1
rs751448371 1.000 0.080 10 62813572 missense variant C/G;T snv 1
rs281865134 1.000 0.080 16 11553578 missense variant G/A;C snv 4.0E-06 1
rs281865135 1.000 0.080 16 11549720 missense variant G/A;T snv 1
rs1182353109
MPZ
1.000 0.080 1 161306725 frameshift variant A/- del 7.0E-06 1
rs1407955132
MPZ
1.000 0.080 1 161306707 splice donor variant C/A snv 1
rs1553259511
MPZ
1.000 0.080 1 161305976 frameshift variant -/T delins 1
rs1553259566
MPZ
1.000 0.080 1 161306349 frameshift variant -/CTGC delins 1
rs1553259651
MPZ
1.000 0.080 1 161306772 stop gained -/TCAC delins 1
rs1553259663
MPZ
1.000 0.080 1 161306824 missense variant G/C snv 1
rs1553259683
MPZ
1.000 0.080 1 161306858 stop gained G/A snv 1
rs1558153994
MPZ
1.000 0.080 1 161306745 synonymous variant G/A snv 1
rs1558154754
MPZ
1.000 0.080 1 161307415 frameshift variant G/- delins 1
rs755446743
MPZ
1.000 0.080 1 161305915 inframe deletion TCT/- delins 3.6E-05 7.0E-06 1
rs786204119
MPZ
1.000 0.080 1 161307310 missense variant T/C snv 1
rs786204215
MPZ
1.000 0.080 1 161306842 missense variant G/A snv 1
rs863224449
MPZ
1.000 0.080 1 161306737 missense variant G/A;C snv 1
rs1426969421 1.000 0.080 17 15260649 splice donor variant C/A;T snv 1
rs1555568475 1.000 0.080 17 15259189 stop gained C/T snv 1
rs1567704791 1.000 0.080 17 15239528 frameshift variant AG/- delins 1
rs864622678 1.000 0.080 17 15239509 frameshift variant CC/A delins 1
rs104894160 0.925 0.080 10 62813491 missense variant C/A snv 2
rs281865139 0.925 0.080 10 62813478 missense variant G/T snv 2
rs104894520 0.925 0.080 16 11553566 missense variant G/T snv 2
rs104894521 0.925 0.080 16 11553564 missense variant A/C snv 2