Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs1204382931 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 10
rs144848 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs712 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs1057520001 0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1800264
DMD
0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03 5
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 32
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs6505162 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs10811474 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 11
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1137100 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62