Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs281865192 0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04 11
rs150726175 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs539400286 0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05 9
rs397515360 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 8
rs104894673
CRX
0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 8
rs61750130 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 7
rs386834152 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 7
rs62645748 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 7
rs727503855 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 6
rs61752871 0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 6
rs775796581 0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 5
rs386834261 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 5
rs61751404 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 4
rs62636275 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 4
rs104894671
CRX
0.851 0.080 19 47836381 missense variant A/C snv 4
rs61750168 0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04 4
rs121917744 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 4
rs121917745 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 4
rs62636299 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 4
rs2276717 0.851 0.080 3 170483441 missense variant C/T snv 1.7E-03 5.9E-04 4
rs758593134 0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06 4
rs61749423 0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 3
rs62635288 0.882 0.240 12 88141287 missense variant C/A snv 3
rs114342808 0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05 3
rs281865175 0.882 0.080 1 197477775 frameshift variant CAACTCAGGG/- delins 3