Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10272724 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 4
rs17007695 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 4
rs4748793 0.851 0.120 10 22194082 intergenic variant A/G snv 0.18 4
rs7789635 0.882 0.120 7 50405912 downstream gene variant T/C snv 0.40 4
rs76925697 0.925 0.120 9 81132456 regulatory region variant A/T snv 3.4E-02 2
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs979090956 0.827 0.200 7 87553822 missense variant G/C snv 5
rs200378616 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 3
rs2274407 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 4
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs2231137 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 13
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs387906517 0.827 0.120 9 130862919 missense variant G/A snv 6
rs121913448 0.827 0.120 9 130862976 missense variant G/A snv 5
rs1057519773 0.851 0.160 9 130872901 missense variant T/A;C;G snv 4
rs121913451 0.851 0.160 9 130872903 missense variant C/A;G snv 4
rs1966862 0.790 0.120 4 85766908 intron variant A/G snv 0.14 8
rs10821936 0.742 0.200 10 61963818 intron variant C/T snv 0.69 11
rs7089424 0.752 0.200 10 61992400 intron variant T/G snv 0.32 10
rs10740055 0.790 0.240 10 61958720 intron variant C/A snv 0.49 7
rs10994982 0.790 0.120 10 61950345 intron variant A/G snv 0.49 7
rs6479778 0.827 0.200 10 61929318 intron variant T/C;G snv 5
rs7896246 0.925 0.120 10 61964631 intron variant A/G snv 0.74 2
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins 5