Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1345423 1.000 0.080 16 10154207 intron variant G/A;C;T snv 1
rs1267306614 1.000 0.080 3 114171850 missense variant C/G snv 1
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs4911871 1.000 0.080 X 114762580 intron variant A/G snv 0.15 1
rs2293054 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 2
rs796052243 0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs864309483 0.851 0.080 3 123352464 missense variant G/A snv 9
rs28363170 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs393795 0.851 0.160 5 1428399 intron variant G/T snv 0.28 4
rs1799971 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs56984562 0.827 0.200 1 156137666 missense variant C/A;G;T snv 6
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs628031 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 8
rs752513525 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 3
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs165815 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 5
rs146539065 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs387907128 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 2
rs1563945076 0.925 0.160 9 32974556 frameshift variant A/- del 4
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33