Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs9351963 6 73040138 intron variant A/C snv 0.19 1
rs1057910 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1801265 0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs138504221 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs2032592 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 5
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv 3
rs17376848 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 3
rs3758581 0.925 0.040 10 94842866 missense variant A/G snv 0.95 3
rs201253747 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 2
rs2151222 1 206480926 intron variant A/G snv 0.28 1
rs6151627 5 80669717 intron variant A/G snv 0.23 1
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs2306283 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1555909961 1.000 0.080 21 18398320 frameshift variant AGTGC/- del 2
rs7548189 0.882 0.160 1 97402157 intron variant C/A snv 0.19 4
rs10474485 1.000 0.040 5 76975028 intron variant C/A snv 0.26 2
rs370244148 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs1458320839 2 219218640 missense variant C/A;T snv 1
rs1042597 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 3
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106