Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs4246215 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 29
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs1275561861 0.672 0.360 6 29944350 missense variant G/A snv 23
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19
rs2077647 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 16
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs147001633 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs387906659 0.742 0.280 19 40257052 stop gained C/A;T snv 14
rs121434629 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 13
rs771138120 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 13
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs1057519753 0.763 0.120 1 64846664 missense variant C/A snv 9
rs2293157 0.763 0.120 17 42300657 intron variant C/A;T snv 9
rs778036161 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 9