Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12508222 | 0.925 | 0.080 | 4 | 125449492 | missense variant | G/A;T | snv | 4.3E-02; 2.0E-05 | 3 | ||
rs1567047 | 0.925 | 0.080 | 4 | 125451587 | missense variant | G/A | snv | 0.27 | 0.22 | 3 | |
rs2320615 | 0.925 | 0.080 | 4 | 163148797 | intron variant | A/G | snv | 0.78 | 3 | ||
rs753225272 | 0.925 | 0.080 | 4 | 125491730 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs10002268 | 1.000 | 0.080 | 4 | 55653725 | intergenic variant | T/C | snv | 0.41 | 1 | ||
rs11934363 | 1.000 | 0.080 | 4 | 9910477 | intron variant | A/G | snv | 0.24 | 1 | ||
rs413812 | 1.000 | 0.080 | 4 | 170588298 | intron variant | T/C | snv | 0.76 | 1 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs2242652 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 16 | ||
rs61748181 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 10 | |
rs26279 | 0.790 | 0.160 | 5 | 80873118 | missense variant | G/A | snv | 0.73 | 0.70 | 9 | |
rs465498 | 0.776 | 0.200 | 5 | 1325688 | non coding transcript exon variant | A/G | snv | 0.46 | 9 | ||
rs6898743 | 0.776 | 0.160 | 5 | 42602390 | intron variant | C/G | snv | 0.78 | 9 | ||
rs10052657 | 0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 | 7 | ||
rs31563 | 0.851 | 0.160 | 5 | 135899917 | intron variant | C/A;T | snv | 5 | |||
rs31564 | 0.925 | 0.080 | 5 | 135894564 | intron variant | G/A;T | snv | 3 | |||
rs10058728 | 1.000 | 0.080 | 5 | 149524529 | intron variant | A/T | snv | 0.64 | 2 | ||
rs2231917 | 1.000 | 0.080 | 5 | 41925333 | missense variant | C/G | snv | 2.0E-02 | 1.1E-02 | 1 | |
rs7726463 | 1.000 | 0.080 | 5 | 37954971 | intron variant | T/C | snv | 9.1E-02 | 1 |