Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs1553621496 0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs3087243 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs1560755661 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs6277 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 36
rs1559931177 0.827 0.120 3 49047207 stop gained G/A snv 34
rs1331463984 0.701 0.240 16 2176350 missense variant G/A snv 33
rs151344517 0.742 0.320 18 12337505 missense variant C/T snv 31
rs4570625 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 25
rs864321670 0.763 0.320 10 95633012 missense variant C/T snv 24