Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs146515657 3 49292533 missense variant T/C snv 1.1E-04 3.1E-04 1
rs149808404 11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06 1
rs2229416 17 37252940 synonymous variant C/T snv 0.18 0.12 1
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
rs7350481 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 8
rs3828599 0.882 0.040 5 151022235 intron variant A/G snv 0.67 5
rs2297322 1.000 0.040 13 98723927 missense variant C/G;T snv 0.22 4
rs633389 1.000 0.040 11 116796621 upstream gene variant C/T snv 0.13 4
rs1028728 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 3
rs2454727 0.925 0.040 12 122702333 missense variant C/T snv 3
rs3829365 0.925 0.040 13 37598759 5 prime UTR variant G/A;C snv 4.0E-06; 0.11 3
rs7314976 0.925 0.040 12 122702353 missense variant G/A;C snv 3.9E-02; 4.5E-06 3
rs761886494
LPL
0.925 0.040 8 19955870 missense variant G/A snv 1.2E-05 2.1E-05 3
rs1335550286 1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06 2
rs1451659304 1.000 0.040 16 868990 missense variant A/C snv 2
rs1468271 1.000 0.040 7 24287362 intron variant C/T snv 0.97 2