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
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
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
rs869312953 0.851 0.120 1 64846735 missense variant G/T snv 5
rs1360698171 0.851 0.080 1 182584103 missense variant T/C snv 4
rs753000469 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 4
rs2308950 0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02 3
rs201045130 0.925 0.040 1 39659467 missense variant A/G snv 9.9E-05 1.0E-04 2
rs147001633 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs2228014 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 14
rs3116496 0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14 11
rs61753793 0.851 0.120 2 47799002 missense variant T/C snv 3.6E-05 5.6E-05 4
rs10931910 0.925 0.040 2 200659013 intron variant A/G;T snv 2
rs1444068378 1.000 0.040 2 105363404 missense variant G/A snv 4.0E-06 1
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs556915505 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 5
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
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12