Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200661329 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1560755661 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1400419650 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022 0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1555462347 0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1294950721 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs142239530 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
rs1247665387 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1421405659 0.851 0.360 12 101642529 missense variant T/C;G snv 13