Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs17561 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs144848 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs1321845532 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 4
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614