Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs1043210477 0.701 0.520 3 49358250 missense variant G/A snv 19
rs1064794533 0.882 0.080 16 56336846 missense variant G/A snv 4
rs113994152 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 11
rs1267306614 1.000 0.080 3 114171850 missense variant C/G snv 1
rs1345423 1.000 0.080 16 10154207 intron variant G/A;C;T snv 1
rs139455627 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs146539065 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs147484110 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1554389088 0.807 0.160 7 44243526 missense variant G/A snv 27
rs1563945076 0.925 0.160 9 32974556 frameshift variant A/- del 4
rs1569151872 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs165815 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 5
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1799836 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 7
rs1799971 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs2293054 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 2
rs267606670 0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs28363170 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs34778348 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 15
rs35801418 0.827 0.120 12 40321114 missense variant A/G snv 7
rs387907128 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 2
rs393795 0.851 0.160 5 1428399 intron variant G/T snv 0.28 4
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249