Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs1800587 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 43
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs6746030 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 16
rs7775 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 14
rs419598 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 13
rs1143633 0.752 0.280 2 112832890 intron variant C/G;T snv 11
rs288326 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 9
rs17039192 0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02 4
rs77245812 0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02 3
rs3771501 0.925 0.040 2 70490521 intron variant A/G snv 0.60 2
rs4144782
EN1
0.925 0.040 2 118844296 non coding transcript exon variant A/C;G snv 2
rs10172410 1.000 0.040 2 181487841 intron variant T/C snv 0.45 1
rs11688000 1.000 0.040 2 75066030 intron variant A/G snv 0.34 1
rs12618428 1.000 0.040 2 150876465 regulatory region variant A/G snv 0.14 1
rs2061027 1.000 0.040 2 33209269 intron variant A/G snv 0.44 1
rs2287047 1.000 0.040 2 102157594 intron variant G/A snv 0.39 1
rs2862851 1.000 0.040 2 70485670 intron variant T/C snv 0.58 1
rs62174901 1.000 0.040 2 165131833 intron variant T/C snv 0.12 1
rs62174906 1.000 0.040 2 165151847 intron variant A/G snv 0.13 1
rs62182810 1.000 0.040 2 203522759 intron variant G/A;C snv 1
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131