Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs1799964 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 47
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs4646903 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1799889 0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs3025058 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs6721961 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 24
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22