Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1431315635 | 0.882 | 0.120 | 6 | 26092928 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs755284374 | 0.882 | 0.120 | 6 | 26093122 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs897206619 | 0.882 | 0.120 | 6 | 26093128 | missense variant | C/T | snv | 3.5E-05 | 3 | ||
rs675520 | 0.925 | 0.080 | 6 | 137672095 | non coding transcript exon variant | A/G;T | snv | 2 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs4646437 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 8 | ||
rs1054690270 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 5 | |||
rs2679757 | 0.925 | 0.080 | 8 | 102858590 | intron variant | A/G | snv | 0.37 | 2 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs430397 | 0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 | 9 | |
rs4919510 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 32 | |
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 27 | |
rs11003123 | 0.827 | 0.200 | 10 | 52771774 | upstream gene variant | G/A | snv | 0.30 | 6 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs2229113 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 10 | |
rs236918 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 10 | |||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs11554495 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 19 | |
rs12304647 | 0.807 | 0.160 | 12 | 53991163 | intron variant | A/C | snv | 0.26 | 6 |