Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80356814 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 15
rs121913603
MPZ
0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 12
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv 11
rs28940291 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 9
rs142000963 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs119103267 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 7
rs1553259662
MPZ
0.827 0.200 1 161306821 missense variant A/G snv 7
rs60864230 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 7
rs119103268 0.827 0.080 1 11992689 missense variant C/T snv 6
rs121913597
MPZ
0.827 0.160 1 161307268 missense variant T/A snv 5
rs121913602
MPZ
0.851 0.120 1 161307308 missense variant T/A snv 5
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 5
rs121908160 0.882 0.080 1 10258602 missense variant A/T snv 4
rs572010627
MPZ
0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 4
rs57318642 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 4
rs59885338 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 4
rs121913599
MPZ
0.882 0.080 1 161306763 missense variant G/T snv 3
rs28940294 0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 3
rs1057515421 0.925 0.120 1 156136284 stop gained C/T snv 2
rs121913608
MPZ
0.925 0.080 1 161306789 missense variant C/T snv 2
rs1553192091 0.925 0.080 1 116395247 missense variant C/A;G snv 2
rs1553259643
MPZ
0.925 0.080 1 161306719 frameshift variant TACA/- delins 2
rs1553259703
MPZ
0.925 0.080 1 161306900 stop gained G/A snv 2
rs1553259760
MPZ
0.925 0.080 1 161307299 missense variant T/C snv 2
rs2236057 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 2