Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2292016 | 0.851 | 0.120 | 5 | 38845758 | non coding transcript exon variant | G/T | snv | 1.9E-02 | 5 | ||
rs587783064 | 0.851 | 0.120 | 17 | 7669626 | missense variant | C/A;T | snv | 5 | |||
rs779682021 | 0.882 | 0.120 | 15 | 74721227 | missense variant | A/C | snv | 5 | |||
rs798766 | 0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 | 6 | ||
rs11466445 | 0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins | 5 | |||
rs12628 | 0.776 | 0.160 | 11 | 534242 | synonymous variant | A/G | snv | 0.32 | 0.34 | 10 | |
rs138213197 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 24 | |
rs17881656 | 0.925 | 0.240 | 4 | 1804404 | missense variant | T/A;C | snv | 8.0E-06; 3.3E-03 | 3 | ||
rs1800371 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 15 | ||
rs386675647 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 10 | |||
rs9642880 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 9 | |||
rs121913479 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 10 | ||
rs1805105 | 0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 | 11 | |
rs2107425 | 0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv | 16 | |||
rs3807987 | 0.732 | 0.280 | 7 | 116539780 | intron variant | G/A | snv | 7.6E-02 | 17 | ||
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs2294008 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 28 | |
rs2306283 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 16 | ||
rs402710 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 18 | |
rs7439366 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 16 | |
rs7804372 | 0.716 | 0.320 | 7 | 116554174 | intron variant | T/A | snv | 0.27 | 19 | ||
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs762551 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 23 |