Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs5522 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 19
rs1143684 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 4
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2303579 0.925 0.040 15 55860531 missense variant T/C snv 0.74 0.72 2
rs7157599 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 6
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs4646 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 16
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs11868035 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 14
rs1108580
DBH
0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 9
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs1554948 0.925 0.080 17 7383007 synonymous variant T/A;C snv 0.42; 4.0E-06 2
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs2070045 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 4
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1799990 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 23
rs11564148 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 4
rs3219489 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 24
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs16969968 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 37
rs1800497 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 56