Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs779027563 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs200661329 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1560755661 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs886041065 0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs79184941 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1559931177 0.827 0.120 3 49047207 stop gained G/A snv 34
rs146539065 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs875989800 0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1331463984 0.701 0.240 16 2176350 missense variant G/A snv 33
rs113994095 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs121918455 0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs77543610 0.667 0.560 10 121520160 missense variant G/C snv 28
rs267607261 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs121918460 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs397517148 0.776 0.200 2 39023128 missense variant C/T snv 27
rs77078070 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1569509136 0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1555429629 0.763 0.200 15 40729632 missense variant G/A snv 23
rs113994097 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22