Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17154353 0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06 3
rs633185 0.925 0.080 11 100722807 intron variant G/A;C snv 10
rs37972 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 5
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 11
rs16969968 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 37
rs679620 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 17
rs1800888 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 23
rs776746 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs5370 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 37
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs3025058 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1982073 0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs56149945 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
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
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82