Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2293869
RP1
8 54626835 missense variant A/T snv 0.34 0.33 1
rs2425955 20 47540255 intron variant G/T snv 0.47 1
rs4635554 2 21166787 intergenic variant T/G snv 0.37 1
rs6074 15 58568764 synonymous variant C/A;G snv 0.19; 2.8E-05 1
rs6094753 20 47630030 intron variant G/A snv 0.47 1
rs672059 1 183193404 intron variant G/A snv 0.57 1
rs754698878 16 869919 stop gained G/C snv 4.0E-06 7.0E-06 1
rs759009903
ACE
17 63484413 missense variant C/G;T snv 1.6E-05 1
rs912378886 19 4155009 stop gained G/A snv 1.6E-05 1.4E-05 1
rs9906543 17 37162308 intron variant T/A;C snv 1
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
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
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs738409 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs1042713 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs429358 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs58542926 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 42