Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs14259 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs765798193 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 18
rs121434491 0.752 0.200 2 55871091 missense variant G/A snv 15
rs3825172 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 14
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv 11
rs137853006 0.776 0.080 4 16013299 missense variant G/A snv 11
rs1282382243 0.807 0.120 13 50843630 missense variant G/A snv 8
rs768435443 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 8
rs11196205 0.827 0.200 10 113047288 intron variant G/A;C;T snv 7
rs1557024919 0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs771676129 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 7
rs999947969 0.827 0.080 7 80671145 synonymous variant C/T snv 7
rs62638634 0.925 0.080 X 38322921 missense variant C/A snv 4
rs763544450
ERG
1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 4
rs137853298 0.925 0.080 22 32859351 missense variant A/T snv 3
rs281874657 0.925 0.160 X 108586717 stop gained C/T snv 3
rs1057518955 1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs281874727 1.000 0.160 X 108681837 stop gained C/T snv 2
rs2853502
ND5 ; CYTB
1.000 0.200 MT 13276 missense variant A/C;G;T snv 2