Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9594782 | 1.000 | 0.080 | 13 | 42577050 | intron variant | T/C | snv | 4.0E-02 | 1 | ||
rs9402349 | 1.000 | 0.080 | 6 | 131863968 | intron variant | A/C | snv | 9.8E-02 | 1 | ||
rs869312687 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 8 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs768079285 | 1.000 | 0.080 | 10 | 20840824 | frameshift variant | T/- | delins | 8.0E-06 | 2 | ||
rs756529 | 1.000 | 0.080 | 20 | 49394471 | intron variant | G/A | snv | 0.44 | 1 | ||
rs755492182 | 0.882 | 0.080 | 1 | 236735677 | missense variant | C/T | snv | 3 | |||
rs75404003 | 1.000 | 0.080 | 18 | 62361277 | intron variant | C/- | delins | 1 | |||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 7 | ||
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 | |
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs4966014 | 0.882 | 0.200 | 15 | 98704789 | intron variant | C/G;T | snv | 3 | |||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 14 | ||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs4129218 | 1.000 | 0.080 | 12 | 65564881 | intron variant | G/A | snv | 0.70 | 1 | ||
rs397516037 | 0.851 | 0.120 | 11 | 47332189 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
rs397516005 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 5 | |
rs387907267 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 4 |