Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9470080 0.827 0.080 6 35678658 intron variant T/A;C snv 13
rs110402 0.790 0.120 17 45802681 intron variant G/A;C snv 12
rs2298383 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 11
rs4713916 0.790 0.160 6 35702206 intron variant A/C;G;T snv 11
rs786204858 0.776 0.280 10 87933079 missense variant A/G;T snv 11
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs1481318368
TH
0.827 0.120 11 2169802 missense variant C/T snv 10
rs2020936 0.776 0.160 17 30223796 intron variant G/A;C snv 10
rs3740393 0.776 0.280 10 102876898 intron variant G/C;T snv 10
rs144078282 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 9
rs1555350397 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs200203460 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9
rs7124442 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 9
rs1085308045 0.807 0.160 10 87933128 missense variant C/G;T snv 8
rs1085308056 0.851 0.160 10 87957850 splice region variant C/G snv 8
rs1800955 0.827 0.160 11 636784 upstream gene variant T/C;G snv 8
rs769540300 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 8
rs900418273 0.807 0.120 11 113393764 missense variant A/G snv 8
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 7
rs2072621 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 7
rs387906653 0.882 0.120 8 42428829 stop gained C/A;T snv 7
rs7194256 0.827 0.120 16 55703779 3 prime UTR variant C/G;T snv 7
rs2349775 0.851 0.120 7 8678450 intron variant G/A;C snv 6
rs3817190 0.851 0.080 12 121274274 missense variant T/A;G snv 0.38 6
rs2072115 0.882 0.080 12 47751585 intron variant A/C;G snv 5