Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1967017 | 0.882 | 0.160 | 1 | 145711421 | upstream gene variant | A/G | snv | 0.43 | 5 | ||
rs199976415 | 1.000 | 0.040 | 1 | 26911982 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 | 2 | |
rs200879349 | 0.925 | 0.240 | 1 | 169468804 | missense variant | T/G | snv | 5.2E-05 | 6.3E-05 | 3 | |
rs2070150 | 0.827 | 0.280 | 1 | 161791486 | missense variant | G/C | snv | 0.14 | 9.2E-02 | 6 | |
rs2146727 | 0.925 | 0.080 | 1 | 167312910 | intron variant | G/A | snv | 0.56 | 3 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2228146 | 0.925 | 0.120 | 1 | 154454574 | missense variant | G/A | snv | 1.3E-02; 4.0E-06 | 5.4E-02 | 3 | |
rs2275558 | 0.882 | 0.200 | 1 | 164559883 | missense variant | G/A | snv | 0.30 | 0.19 | 5 | |
rs2275703 | 0.925 | 0.080 | 1 | 160195305 | intron variant | A/C | snv | 0.38 | 3 | ||
rs228648 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 13 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs267734 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 7 | ||
rs2890565 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 15 | |
rs28936379 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 10 | ||
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
rs3753886 | 1.000 | 0.040 | 1 | 229602423 | synonymous variant | T/A;G | snv | 5.2E-05; 0.56 | 2 | ||
rs3767434 | 0.925 | 0.080 | 1 | 167401914 | intron variant | T/C | snv | 0.14 | 3 | ||
rs3789678 | 1.000 | 0.040 | 1 | 230713736 | intron variant | C/T | snv | 0.15 | 5 | ||
rs3861950 | 0.827 | 0.160 | 1 | 173187153 | intron variant | T/C | snv | 0.47 | 7 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4641 | 0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 | 6 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 18 | |
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 |