Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3753584 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 10
rs6854845 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 6
rs2853668 0.882 0.080 5 1299910 upstream gene variant G/T snv 0.33 5
rs3775292 0.851 0.080 4 186081871 non coding transcript exon variant C/G snv 0.82 5
rs9365723 0.827 0.080 6 158014540 intron variant A/C;G snv 0.56 5
rs17026425 0.882 0.080 4 149751362 intron variant G/A snv 4.9E-02 4
rs3804513 0.851 0.080 6 52188399 intron variant A/T snv 2.4E-02 4
rs11536898 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 3
rs2189517 0.882 0.080 14 68536271 intron variant A/G snv 0.49 3
rs2632159 0.882 0.080 8 127021159 intron variant G/A;T snv 3
rs10889675 1.000 0.080 1 67256533 intron variant C/A snv 0.11 2
rs17268122 1.000 0.080 13 95192240 intron variant G/A;C;T snv 2
rs2227935
BLM
0.925 0.080 15 90782869 missense variant C/A;G;T snv 4.0E-06; 5.6E-02 2
rs2269349 0.925 0.080 3 39411566 non coding transcript exon variant C/T snv 0.49 2
rs4596 1.000 0.080 11 18366581 3 prime UTR variant G/C snv 0.41 2
rs7356 1.000 0.080 1 27891589 3 prime UTR variant T/A;C snv 2
rs7542081 1.000 0.080 1 67237570 intron variant C/A snv 0.56 2
rs781230344 1.000 0.080 8 104014559 missense variant C/G snv 4.8E-05 2
rs10857561 1.000 0.080 10 48400595 intron variant G/A snv 0.29 1
rs11247735 1.000 0.080 1 25804968 intron variant G/A;C snv 1
rs11718498 1.000 0.080 3 126654076 intron variant G/A snv 0.36 1
rs1525489 1.000 0.080 7 122993419 downstream gene variant A/G snv 3.6E-02 1
rs17239025 1.000 0.080 13 30765768 downstream gene variant G/C snv 4.1E-02 1
rs202195689 1.000 0.080 4 7460097 mature miRNA variant -/C;CACCC;CCC delins 1
rs2072749 1.000 0.080 1 25804530 intron variant T/C snv 0.23 1