Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1458320839 | 2 | 219218640 | missense variant | C/A;T | snv | 1 | |||||
rs546983534 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
rs745614189 | 7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||||
rs769107320 | 4 | 69108277 | missense variant | G/A;C | snv | 1 | |||||
rs142110773 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 13 | |
rs200748388 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 1 | ||||
rs1050274678 | 0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 3 | |
rs529855742 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 15 | |
rs138504221 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 9 | |
rs2032592 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 5 | ||
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 11 | |
rs201253747 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 2 | ||
rs67376798 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 9 | |
rs56038477 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 1 | |||
rs17868320 | 2 | 233669782 | intron variant | C/T | snv | 4.0E-02 | 1 | ||||
rs17376848 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 3 | |
rs2231137 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 13 | |
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs12513549 | 5 | 80781309 | intron variant | G/T | snv | 0.13 | 1 | ||||
rs72552763 | 0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 | 3 | ||
rs9351963 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 1 | ||||
rs7548189 | 0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 | 4 | ||
rs211105 | 1.000 | 11 | 18033757 | intron variant | T/G | snv | 0.19 | 4 | |||
rs6151627 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 1 | ||||
rs10474485 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 2 |