Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003 0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1553621496 0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1569355102 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs200661329 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs867410737 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs369160589 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127 0.742 0.400 16 5079078 missense variant T/C snv 34
rs387907144 0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1557781252 0.742 0.320 1 153816414 stop gained G/A snv 33
rs1563183492 0.708 0.520 7 70766248 missense variant C/T snv 32
rs559979281 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs1421405659 0.851 0.360 12 101642529 missense variant T/C;G snv 13