Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35801418 0.827 0.120 12 40321114 missense variant A/G snv 7
rs56984562 0.827 0.200 1 156137666 missense variant C/A;G;T snv 6
rs165815 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 5
rs1064794533 0.882 0.080 16 56336846 missense variant G/A snv 4
rs752513525 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 3
rs387907128 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 2
rs1267306614 1.000 0.080 3 114171850 missense variant C/G snv 1
rs146539065 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs2293054 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 2
rs28363170 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs1569151872 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs1563945076 0.925 0.160 9 32974556 frameshift variant A/- del 4
rs776969714 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs147484110 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs796052243 0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs4704559 0.925 0.080 5 79517086 upstream gene variant A/G snv 0.15 4