Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913452 0.851 0.080 9 130873027 missense variant T/A;C;G snv 4
rs10065633 1.000 0.040 5 132481024 intron variant T/C snv 0.38 1
rs2243250
IL4
0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 61
rs2070874
IL4
0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 27
rs947141826 0.925 0.040 10 133394281 missense variant C/T snv 2.1E-05 2
rs2228014 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 14
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs397507476 0.882 0.200 7 140778011 missense variant T/A;G snv 4
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2077647 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 16
rs2234693 0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs1801132 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 22
rs2228480 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 16
rs3798577 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 16
rs2308950 0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02 3
rs556915505 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 5
rs869312828 0.807 0.080 5 177512369 missense variant C/T snv 7
rs1360698171 0.851 0.080 1 182584103 missense variant T/C snv 4
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs1801280 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 14
rs10931910 0.925 0.040 2 200659013 intron variant A/G;T snv 2
rs3116496 0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14 11
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72