Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs1799883 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs121908117 0.708 0.440 3 48466707 missense variant G/A snv 17
rs713041 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 16
rs1044498 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 15
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs1043307 0.776 0.360 12 121915890 missense variant A/C;G snv 14
rs1063856
VWF
0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 14
rs3825172 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 14
rs4343
ACE
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 14
rs1337503417 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 12
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv 10
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs315952 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 10
rs1332629192
ALB
0.851 0.200 4 73404374 missense variant C/T snv 7
rs1800783 0.827 0.280 7 150992309 intron variant A/C;G;T snv 7
rs216311
VWF
0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 7
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv 6