Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1130233 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 13
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs3807987 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 17
rs7804372 0.716 0.320 7 116554174 intron variant T/A snv 0.27 19
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs2031920 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs11671784 0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 9
rs744154 0.763 0.280 16 13921224 intron variant G/C snv 0.23 11
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs9297976
JRK ; PSCA
0.790 0.160 8 142670817 intron variant T/C;G snv 7
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 28
rs2976391
PSCA ; JRK
0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 7
rs2976392
JRK ; PSCA
0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 15