Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs17860508 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 11
rs5844572 0.752 0.360 22 23893562 intron variant -/ATTC delins 11
rs1003878 0.882 0.200 6 32332045 stop gained G/A snv 0.19 0.23 3
rs10168266 0.776 0.400 2 191071078 intron variant C/T snv 0.19 8
rs10174238 0.724 0.200 2 191108308 intron variant G/A snv 0.70 14
rs10181656 0.763 0.360 2 191105153 intron variant G/C snv 0.79 9
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs10488631 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 13
rs10499194 0.752 0.400 6 137681500 intron variant C/T snv 0.24 10
rs1050501 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 15
rs10516487 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 11
rs1051792 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 5
rs1059702 0.807 0.280 X 154018741 missense variant A/G snv 0.72 7
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1061622 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 33
rs1063320 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 12
rs1077393 0.882 0.200 6 31642752 non coding transcript exon variant A/G snv 0.44 3
rs10818488 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 8
rs10840759 0.882 0.200 12 8138610 intron variant C/T snv 0.28 3
rs10889677 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 40
rs10954213 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 11
rs10954214 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 4