Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 6
rs768824654 1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs10203853 1.000 0.080 2 233778772 intron variant A/G;T snv 5
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv 5
rs10929251 1.000 0.080 2 233637583 intron variant A/G snv 0.13 5
rs17864678 1.000 0.080 2 233635964 intron variant T/A snv 5.6E-03 5
rs35690297 1.000 0.120 7 6002584 start lost T/A;C snv 5
rs587781716 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 5
rs6728940 1.000 0.080 2 233780518 intron variant G/A snv 0.26 5
rs773647920 1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 5
rs786202567 1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 5
rs1044471 1.000 0.080 12 1787790 3 prime UTR variant C/T snv 0.38 4
rs1063538 1.000 0.080 3 186856394 3 prime UTR variant T/C snv 0.55 4
rs121912679 1.000 0.040 2 157761077 missense variant C/T snv 4
rs13058338 1.000 0.040 22 37236730 intron variant T/A;G snv 4
rs1564483 1.000 0.080 18 63127421 3 prime UTR variant C/T snv 0.22 4
rs1940475 1.000 0.040 11 102722517 missense variant T/C;G snv 0.54 4
rs2302427 1.000 0.080 7 148828812 missense variant C/G snv 7.8E-02 6.0E-02 4
rs3136558 1.000 2 112833698 intron variant A/G snv 0.21 4
rs3757733 1.000 0.040 7 116553675 intron variant T/A snv 0.26 4
rs4642 1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29 4
rs587776551
ATM
1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05 4
rs587779872 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 4
rs587780784 1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06 4
rs730881687 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 4