Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
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
rs4810485 0.732 0.480 20 46119308 intron variant T/A;G snv 16
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs2297235 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs876661024 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 11
rs3024496 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 6
rs842647
REL
0.827 0.400 2 60892336 intron variant G/A snv 0.62 6
rs1540087 1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02 2
rs2278952 1.000 0.080 17 17582270 5 prime UTR variant G/A snv 5.4E-02 2
rs9527 10 102863821 3 prime UTR variant C/T snv 0.21 2
rs11191979 10 104265109 intron variant T/C snv 0.23 1
rs12919719 16 68788438 intron variant C/G snv 0.25 1
rs3790064
PNP
14 20472910 non coding transcript exon variant A/G;T snv 1
rs7196495 16 68739957 intron variant C/G;T snv 1
rs7196661 16 68740009 intron variant C/T snv 0.80 1
rs9989407 16 68730609 intergenic variant C/A;G;T snv 1
rs771656368 0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 3
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs897453 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 2