Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4998386 | 1.000 | 0.040 | 16 | 9976688 | intron variant | C/T | snv | 0.11 | 2 | ||
rs283413 | 0.925 | 0.080 | 4 | 99347033 | stop gained | C/A;T | snv | 2 | |||
rs932546861 | 1.000 | 0.040 | 4 | 99347032 | frameshift variant | C/- | delins | 1 | |||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs6283 | 0.882 | 0.120 | 4 | 9783007 | synonymous variant | C/T | snv | 0.64 | 0.64 | 4 | |
rs9516970 | 1.000 | 0.040 | 13 | 97592635 | intergenic variant | G/A | snv | 0.56 | 1 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs11724804 | 0.882 | 0.160 | 4 | 971991 | intron variant | G/A | snv | 0.43 | 4 | ||
rs766440014 | 1.000 | 0.040 | 1 | 9715556 | missense variant | G/A | snv | 8.1E-06 | 1 | ||
rs11248060 | 1.000 | 0.040 | 4 | 970571 | intron variant | C/T | snv | 9.3E-02 | 1 | ||
rs1559085 | 0.925 | 0.040 | 5 | 96742998 | intron variant | A/G | snv | 9.4E-02 | 2 | ||
rs7118648 | 1.000 | 0.040 | 11 | 96375264 | intron variant | T/C;G | snv | 7.5E-02 | 1 | ||
rs591486 | 0.925 | 0.080 | 9 | 95887764 | intron variant | A/G | snv | 0.44 | 2 | ||
rs34311866 | 0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 | 6 | |
rs765106589 | 1.000 | 0.040 | 9 | 95506446 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs3798097 | 1.000 | 0.040 | 5 | 9542417 | intron variant | C/T | snv | 0.23 | 1 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs34884217 | 0.925 | 0.080 | 4 | 950422 | splice acceptor variant | A/C | snv | 7.0E-02 | 6.8E-02 | 2 | |
rs6599389 | 1.000 | 0.040 | 4 | 945325 | intron variant | G/A;T | snv | 1 | |||
rs142821586 | 1.000 | 0.040 | 4 | 945302 | intron variant | CT/- | delins | 3.5E-02 | 1 | ||
rs6599388 | 1.000 | 0.040 | 4 | 945299 | intron variant | C/T | snv | 0.28 | 1 | ||
rs7702187 | 0.925 | 0.040 | 5 | 9332169 | intron variant | T/A | snv | 0.70 | 2 | ||
rs775174756 | 1.000 | 0.040 | 18 | 9126877 | missense variant | A/G | snv | 2.8E-05 | 1.4E-05 | 1 | |
rs906807 | 1.000 | 0.040 | 18 | 9117869 | missense variant | T/C;G | snv | 0.80; 4.0E-06 | 1 |