Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797044801 1.000 0.080 16 70254688 missense variant T/G snv 1
rs1179887323 1.000 0.080 6 44307303 missense variant C/A;T snv 4.0E-06 1
rs73982299 1.000 0.080 17 37274293 missense variant C/T snv 2.3E-04 9.3E-04 1
rs1037610094 1.000 0.080 8 26864491 missense variant C/G;T snv 1.6E-05; 4.0E-06 1
rs587777712 1.000 0.080 8 1882687 missense variant G/A;C snv 1.8E-05 1
rs776497952 1.000 0.080 10 12117722 missense variant C/A;T snv 2.4E-05 1
rs199927590 1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 1
rs587781253 1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06 1
rs372491511 1.000 0.080 10 62814078 missense variant G/A;T snv 8.0E-06 1.4E-05 1
rs1131691282 1.000 0.080 8 74361935 missense variant C/A snv 1
rs886041386 1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 1
rs1555937009 1.000 0.080 X 71223757 missense variant C/G snv 1
rs587781250 1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05 1
rs797044803 1.000 0.080 11 68938355 splice donor variant G/T snv 2.1E-05 1
rs369654856 1.000 0.080 22 30940006 missense variant G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 1
rs202176679
MPZ
1.000 0.080 1 161306116 missense variant C/G;T snv 9.5E-05; 1.6E-05 1
rs760730366
MPZ
1.000 0.080 1 161307356 frameshift variant GGGAGCCC/- delins 1.2E-05 1
rs62636522 1.000 0.080 8 24955877 missense variant G/A;C snv 4.1E-06; 7.2E-04 1
rs1482355069 1.000 0.080 17 15259155 frameshift variant C/- delins 7.0E-06 1
rs786205112 1.000 0.080 17 15239509 frameshift variant C/-;CC delins 1
rs780953863 1.000 0.080 15 89329040 missense variant C/T snv 1.6E-05 7.0E-06 1
rs144183238
PRX
1.000 0.080 19 40397262 stop gained G/A snv 4.0E-05 4.9E-05 1
rs1554122541 1.000 0.080 5 149038339 frameshift variant G/- del 1
rs749850181 1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05 1
rs1424992190 1.000 0.080 11 65132333 missense variant C/T snv 8.0E-06 1