Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs11196172 0.708 0.200 10 112967084 intron variant G/A snv 0.13 18
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs13191445 0.925 0.120 6 26015261 upstream gene variant G/A snv 5.6E-02 4
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1800796 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs181985043 0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06 8
rs192518038 0.790 0.240 4 55547195 non coding transcript exon variant C/A;G snv 8
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82