Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs11134527 0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs11283943
MCC
0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 4
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1190999960 0.807 0.240 11 65571690 missense variant G/A snv 9
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs1285136498 0.807 0.080 5 143400101 missense variant G/A snv 13
rs132770 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 14
rs132793 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 7
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs153109 0.623 0.600 16 28507775 intron variant T/C snv 0.43 37
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs187115 0.695 0.320 11 35154612 intron variant T/C snv 0.37 22
rs1989969
VDR
0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 8
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 21
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs2267437 0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56