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
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
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
rs1331463984 0.701 0.240 16 2176350 missense variant G/A snv 33
rs121918455 0.695 0.440 12 112477720 missense variant A/C;G snv 31
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
rs1563686762 0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs397517154 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs886041125 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12