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
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 12
rs4796030 0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 6
rs74315352 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 6
rs1362575880 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 4
rs17065417 0.882 0.080 6 104958399 intron variant A/C snv 0.10 3
rs34787247 0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv 4
rs13034994 0.882 0.080 2 15938513 non coding transcript exon variant A/C;G snv 3
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs786203436 0.701 0.280 17 7675125 missense variant A/C;G;T snv 20
rs63750306 0.701 0.320 14 73173663 missense variant A/C;G;T snv 17
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs587781960 0.882 0.080 22 28689164 missense variant A/C;G;T snv 1.3E-05; 7.3E-05 4
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2273267 0.882 0.080 1 114716848 upstream gene variant A/C;T snv 4
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs121912443 0.732 0.160 21 31663857 missense variant A/G snv 15
rs7652589 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 13
rs121917887 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs110419 0.827 0.200 11 8231306 intron variant A/G snv 0.42 8
rs1501899 0.790 0.240 3 122188481 intron variant A/G snv 0.62 8