Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3219493 0.882 0.120 1 45330597 intron variant G/C snv 0.92 0.93 3
rs2228104
POR
0.882 0.120 7 75985635 synonymous variant T/A;C snv 4.5E-06; 0.92 3
rs2250889 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 24
rs1046428 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 8
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs10719 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1805105 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 11
rs7439366 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 16
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs12529 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 10
rs2306283 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs709816
NBN
0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51 10
rs3024270 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 8
rs2976392
JRK ; PSCA
0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 15
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
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
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73