Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs879253863 0.925 0.160 4 153324126 missense variant A/C snv 4
rs8060632 16 83591958 intron variant A/C snv 0.68 2
rs104894351 0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs6746030 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 16
rs11541796
TTR
0.807 0.280 18 31593011 missense variant A/G snv 9
rs587781262 0.882 0.240 X 107640938 missense variant A/G snv 6
rs17032980 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 3
rs1474642 6 170543473 intron variant A/G snv 0.13 2
rs492338 21 42281867 intron variant A/G snv 0.52 2
rs916758 7 96096624 intron variant A/G snv 0.20 2
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs17748074
DCC
18 52420925 intron variant A/G;T snv 2
rs958191819
TTR
0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 6
rs3887412 16 16081173 intron variant A/T snv 0.25 2
rs6552496 4 181371930 intergenic variant C/A snv 0.52 2
rs7818688 1.000 0.120 8 95011854 intron variant C/A;G snv 3
rs3750898 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 2
rs28939680 0.925 0.080 7 76303841 missense variant C/A;G;T snv 4
rs113994097 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs121909112 0.882 0.080 7 76303855 missense variant C/G snv 7
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 5
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