Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7846412 | 1.000 | 0.040 | 8 | 91032300 | intron variant | A/G | snv | 0.47 | 1 | ||
rs3832852 | 0.925 | 0.080 | 12 | 9093581 | splice acceptor variant | ATGGT/- | delins | 2 | |||
rs669 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 7 | |
rs1805874 | 1.000 | 0.040 | 8 | 90069834 | intron variant | A/C;T | snv | 1 | |||
rs3775478 | 1.000 | 0.040 | 4 | 89921689 | intron variant | A/G | snv | 0.14 | 1 | ||
rs3212366 | 1.000 | 0.040 | 16 | 89919844 | missense variant | T/C;G | snv | 2.4E-03; 8.2E-06 | 1 | ||
rs885479 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 16 | |
rs1805008 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 16 | |
rs1805007 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 25 | ||
rs33932559 | 0.925 | 0.160 | 16 | 89919617 | missense variant | T/C | snv | 3.1E-03 | 1.1E-03 | 2 | |
rs1232525952 | 0.925 | 0.080 | 16 | 89919597 | synonymous variant | G/A | snv | 8.1E-06 | 2 | ||
rs1340863788 | 0.925 | 0.080 | 16 | 89919595 | missense variant | C/A;T | snv | 2 | |||
rs34090186 | 0.882 | 0.080 | 16 | 89919458 | missense variant | G/A | snv | 9.6E-04 | 2.7E-04 | 3 | |
rs6532197 | 1.000 | 0.040 | 4 | 89876150 | upstream gene variant | A/G | snv | 0.16 | 1 | ||
rs6532194 | 1.000 | 0.040 | 4 | 89859751 | intergenic variant | C/G;T | snv | 1 | |||
rs2583988 | 0.925 | 0.080 | 4 | 89839677 | non coding transcript exon variant | C/A;T | snv | 2 | |||
rs2619364 | 1.000 | 0.040 | 4 | 89838736 | non coding transcript exon variant | A/C;G | snv | 1 | |||
rs2619363 | 1.000 | 0.040 | 4 | 89837896 | intron variant | G/C;T | snv | 1 | |||
rs2301134 | 1.000 | 0.040 | 4 | 89837794 | intron variant | A/G | snv | 0.57 | 1 | ||
rs2301135 | 1.000 | 0.040 | 4 | 89837238 | 5 prime UTR variant | G/C | snv | 0.58 | 1 | ||
rs1372520 | 1.000 | 0.040 | 4 | 89836354 | intron variant | T/C | snv | 0.78 | 1 | ||
rs3756063 | 0.925 | 0.080 | 4 | 89836243 | intron variant | G/C | snv | 0.58 | 2 | ||
rs1372519 | 1.000 | 0.040 | 4 | 89836158 | 5 prime UTR variant | A/G | snv | 0.77 | 1 | ||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs1330229174 | 0.925 | 0.080 | 4 | 89835568 | missense variant | T/C | snv | 4.0E-06 | 2 |