Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61735836 21 46152973 missense variant C/T snv 5.7E-02 5.6E-02 3
rs1043673 19 55000864 missense variant C/A snv 0.37 0.39 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
rs113835371 17 50353660 missense variant G/A snv 9.3E-03 1.0E-02 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
rs9266150 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 3
rs1133400 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 4
rs157077 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 3
rs1001761 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 2
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
rs897453 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 2
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs11191439 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 6
rs1650697 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 3
rs769255883
XPA
1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 2
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
rs771656368 0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 3
rs6504649 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 4