Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35134728 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 3
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs63750250 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins 5
rs1169704167
ATM
0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 3
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 23
rs111033563 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 8
rs1057519743 0.827 0.120 Y 1196852 missense variant A/C snv 6
rs1051296 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 3
rs10519612 0.882 0.120 4 141732548 intron variant A/C snv 0.10 3
rs213210 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 11
rs2239630 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 6
rs17069665 0.882 0.120 6 108620265 intron variant A/C;G snv 4
rs752746786 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs17855750 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 21
rs3731217 0.763 0.320 9 21984662 intron variant A/C;T snv 10
rs104893636 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 3
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101