Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3212948 0.776 0.160 19 45421104 intron variant G/C snv 0.53 10
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 17
rs374733251
MET
0.882 0.080 7 116740993 missense variant A/G snv 6.0E-05 7.7E-05 5
rs377444977 0.882 0.080 7 55143443 missense variant G/A snv 5.2E-05 2.1E-05 5
rs4769793 0.807 0.120 13 29985289 intergenic variant G/C snv 8
rs735482 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16
rs738791 0.851 0.120 22 23775338 intron variant C/T snv 0.37 6
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs78768932
PXN
0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 6
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480