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
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
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
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
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
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1232898090 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs763351020 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 35
rs5219 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs14259 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs281865545 0.695 0.360 17 64377836 missense variant C/G;T snv 18
rs765798193 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 18
rs713041 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 16
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
rs3825172 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 14
rs35767 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 13
rs2230774 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 12