Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1518111 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 9 | ||
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs1518110 | 0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv | 5 | |||
rs2651899 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 5 | |||
rs12134493 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 4 | ||
rs1050316 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 3 | ||||
rs12740679 | 1 | 150289855 | upstream gene variant | C/G | snv | 0.25 | 1 | ||||
rs2036465 | 1 | 39110310 | intron variant | A/C;G | snv | 1 | |||||
rs3748784 | 1 | 96721618 | upstream gene variant | A/C;G | snv | 0.55 | 1 | ||||
rs56304645 | 1 | 3168622 | intron variant | C/T | snv | 0.25 | 1 | ||||
rs7555006 | 1 | 51014586 | intergenic variant | A/G | snv | 0.48 | 1 | ||||
rs267607261 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 28 | ||
rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs2362290 | 2 | 233916724 | upstream gene variant | G/A | snv | 0.40 | 1 | ||||
rs34097149 | 3 | 154545386 | intergenic variant | T/C | snv | 2.0E-02 | 1 | ||||
rs867770797 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 8 | |||
rs2530223 | 1.000 | 0.080 | 5 | 141634927 | synonymous variant | T/C | snv | 0.62 | 0.68 | 2 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs2072806 | 1.000 | 0.040 | 6 | 26384865 | intron variant | C/G | snv | 7.7E-02 | 2 | ||
rs130060 | 6 | 77463033 | missense variant | A/C;G | snv | 9.9E-03; 4.0E-06 | 1 | ||||
rs8192573 | 6 | 32201219 | missense variant | C/G;T | snv | 1.6E-02 | 1 | ||||
rs9267835 | 6 | 32212846 | missense variant | C/A | snv | 1.1E-02 | 1.8E-02 | 1 |