Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs1569686 0.752 0.400 20 32779273 intron variant G/A;C;T snv 15
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 10
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 6
rs1057519711
KIT
0.882 0.240 4 54733168 missense variant T/A snv 5
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs1057519704
KIT
0.882 0.080 4 54727425 missense variant T/A snv 3
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv 3
rs1222380251 0.925 0.080 5 56875147 missense variant A/T snv 4.0E-06 3
rs1057519701
KIT
1.000 0.080 4 54725978 missense variant G/A snv 1
rs1131692239
KIT
1.000 0.080 4 54727496 inframe deletion CTTATGATC/- delins 1