Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs777476179 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 5 | ||
rs121908529 | 0.851 | 0.160 | 2 | 240871433 | missense variant | G/A;C | snv | 5.6E-04 | 4 | ||
rs7588550 | 0.851 | 0.160 | 2 | 212304043 | intron variant | G/A | snv | 0.96 | 4 | ||
rs11571317 | 0.882 | 0.160 | 2 | 203867285 | upstream gene variant | C/T | snv | 5.2E-02 | 3 | ||
rs1516792 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 2 | |||
rs16347 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 2 | ||
rs730947 | 0.925 | 0.080 | 2 | 218838575 | upstream gene variant | A/C | snv | 1.0E-01 | 2 | ||
rs7583877 | 0.925 | 0.080 | 2 | 99844192 | intron variant | C/T | snv | 0.61 | 2 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 | |
rs1801725 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 39 | |
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1042636 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 23 | |
rs995922697 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 15 | ||
rs1801726 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 13 | |
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs1020608562 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 9 | ||
rs756322971 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 9 | |||
rs3448 | 0.776 | 0.240 | 3 | 49359318 | 3 prime UTR variant | T/C | snv | 0.76 | 8 | ||
rs373909351 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 6 | ||
rs398123538 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 6 | |
rs374118649 | 0.925 | 0.080 | 3 | 58097965 | missense variant | A/G;T | snv | 3.6E-05 | 2 |