Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1006737 0.695 0.120 12 2236129 intron variant G/A snv 0.36 27
rs1018381 0.882 0.040 6 15656839 intron variant G/A snv 0.16 6
rs1039049 1.000 0.040 4 80416472 intron variant G/A snv 0.98 1
rs1041536 1.000 0.040 20 9907627 intergenic variant T/C snv 0.46 1
rs10447760 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 4
rs104886033 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 10
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs1049564
PNP
0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 6
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs10521467 0.925 0.080 9 76036575 intron variant A/G snv 0.12 2
rs10524523 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 7
rs1057518813 0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs1057518907 0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs10748842 0.807 0.120 10 81889983 intron variant T/C snv 0.13 8
rs11030108 1.000 0.040 11 27673917 intron variant A/G snv 0.72 3
rs1108580
DBH
0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 9
rs111231532 1.000 0.040 3 39135911 intron variant C/T snv 5.0E-02 1
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs111600634 1.000 0.040 9 117856347 intron variant T/G snv 1.5E-02 1
rs112422930 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 4
rs1126680 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 5
rs112961612 1.000 0.040 20 41872026 intergenic variant T/A snv 8.2E-02 1
rs113793030 1.000 0.040 10 70287104 upstream gene variant T/C snv 1.7E-02 1