Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs281874657 0.925 0.160 X 108586717 stop gained C/T snv 3
rs281874727 1.000 0.160 X 108681837 stop gained C/T snv 2
rs11196205 0.827 0.200 10 113047288 intron variant G/A;C;T snv 7
rs1249719 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 2
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1160535157 X 120449056 stop gained G/C snv 1
rs74421874 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 14
rs3825172 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 14
rs765798193 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 18
rs14259 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
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
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv 11
rs2853502
ND5 ; CYTB
1.000 0.200 MT 13276 missense variant A/C;G;T snv 2
rs1800592 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 8
rs137853006 0.776 0.080 4 16013299 missense variant G/A snv 11
rs12155400 7 18389298 intron variant A/G snv 2.9E-02 2
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs80338902 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 10
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262