Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 11
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1042713 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1800888 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 23
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs56149945 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs5370 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 37
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs17154353 0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06 3
rs37972 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 5
rs776746 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs3025058 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs633185 0.925 0.080 11 100722807 intron variant G/A;C snv 10
rs679620 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 17