Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805007 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 25 | ||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 23 | |||
rs879255280 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 22 | |||
rs2151280 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 16 | ||
rs885479 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 16 | |
rs4796793 | 0.716 | 0.320 | 17 | 42390192 | upstream gene variant | G/C | snv | 0.67 | 16 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs12951053 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 14 | ||
rs16891982 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 13 | ||
rs749140677 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 13 | ||
rs2228479 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 11 | ||
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 | ||
rs1800407 | 0.807 | 0.200 | 15 | 27985172 | missense variant | C/T | snv | 4.7E-02 | 4.9E-02 | 10 | |
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 10 | ||
rs80359601 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 8 | ||
rs12210050 | 0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 | 8 | ||
rs1805005 | 0.827 | 0.080 | 16 | 89919436 | missense variant | G/T | snv | 8.6E-02 | 8.0E-02 | 8 | |
rs2303425 | 0.790 | 0.120 | 2 | 47403074 | 5 prime UTR variant | T/C | snv | 0.10 | 8 | ||
rs7335046 | 0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 | 7 | ||
rs869025212 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 6 | |||
rs3769823 | 0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 | 6 | |
rs11170164 | 0.827 | 0.120 | 12 | 52519884 | missense variant | C/T | snv | 5.7E-02 | 5.3E-02 | 6 | |
rs16917546 | 0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 | 6 | ||
rs7538876 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 6 | ||
rs1036980234 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 6 |