Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
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