Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2066844 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 54
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs2066845 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 46
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 28
rs559979281 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs4072037 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 22
rs744166 0.689 0.560 17 42362183 intron variant A/G snv 0.48 22
rs2976392
JRK ; PSCA
0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 15
rs1555640521 0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs771184127 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 9
rs9297976
JRK ; PSCA
0.790 0.160 8 142670817 intron variant T/C;G snv 7
rs2976391
PSCA ; JRK
0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 7
rs138377917 0.827 0.160 8 142682113 stop gained G/A snv 2.1E-02 2.2E-02 5