Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 230
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 221
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 153
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 0.58 131
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 127
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 117
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 110
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 81
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 75
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 69
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs7493 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 24
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
rs74421874 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 14