Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs61752717 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 52
rs53576 0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs28937900 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs1555735545 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1718119 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 21
rs2069705 0.695 0.440 12 68161231 intron variant G/A;C snv 19
rs1044396 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 17
rs28935468 0.732 0.240 X 154030912 missense variant G/A snv 17
rs74315431 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs121908552 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 14
rs1554781700 0.851 0.240 9 134701287 missense variant G/T snv 12
rs121913365 0.776 0.320 7 140753332 missense variant T/A;G snv 10
rs208294 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 9
rs5277 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 9
rs61748421 0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs6267 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 9
rs80338958 0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05 9