Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1254113735 12 32822599 missense variant G/C snv 1
rs370819854 3 38551456 missense variant C/G snv 8.0E-06 1
rs1204372364 1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06 2
rs35530544 1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02 2
rs1355262401 1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 2
rs1316189390 1.000 0.040 15 73343594 missense variant T/C snv 4.0E-06 2
rs199473024 7 150947362 missense variant T/C snv 7.0E-06 2
rs794728425 1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins 2
rs794728470 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 2
rs794728508 1.000 0.120 7 150974864 frameshift variant A/- del 2
rs199473387 1.000 0.120 17 70175952 missense variant A/C;G snv 2
rs199472762 1.000 0.120 11 2583540 missense variant C/T snv 2
rs199473405 1.000 0.120 11 2585249 missense variant A/G snv 2
rs397508087 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 2
rs79023478 1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02 2
rs199601548 1.000 0.080 12 32896548 missense variant G/T snv 1.4E-04 4.0E-04 2
rs779640835 1.000 0.040 1 237566723 missense variant C/A;T snv 4.0E-06; 2.8E-05 2
rs879253730 11 123642468 missense variant G/C snv 2
rs137854605 1.000 0.120 3 38581337 missense variant GA/TT mnv 2
rs184442491 1.000 0.120 3 38603888 missense variant C/A snv 2.1E-04 7.7E-04 2
rs199473142 1.000 0.120 3 38597952 missense variant C/T snv 2.1E-05 2
rs199473256 1.000 0.120 3 38556460 missense variant A/C;G snv 2
rs199473283 1.000 0.120 3 38551495 missense variant C/A;G;T snv 4.0E-05 2
rs199473310 1.000 0.120 3 38551076 missense variant T/A;C;G snv 2
rs199473580 1.000 0.120 3 38597926 missense variant G/A snv 1.6E-05 7.0E-06 2