Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 32 | |
rs1129055 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 15 | |
rs17281995 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 11 | |||
rs2607775 | 0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 | 8 | |
rs587778883 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 7 | |||
rs762581936 | 0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 5 | ||
rs56053615 | 0.851 | 0.120 | 3 | 9751845 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 | 4 | ||
rs587778992 | 0.882 | 0.200 | 3 | 37050606 | stop gained | C/T | snv | 4 | |||
rs752967378 | 0.882 | 0.160 | 3 | 12618580 | missense variant | G/A;C | snv | 4.0E-06 | 3 | ||
rs1235228469 | 0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 | 2 | ||
rs1276300653 | 0.925 | 0.120 | 3 | 9757072 | missense variant | T/C | snv | 7.0E-06 | 2 | ||
rs138147246 | 0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs139632793 | 0.925 | 0.120 | 3 | 9751114 | missense variant | G/C | snv | 5.2E-05 | 1.7E-04 | 2 | |
rs145574072 | 0.925 | 0.120 | 3 | 9754765 | synonymous variant | T/C | snv | 4.0E-06 | 2 | ||
rs149243735 | 0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 | 2 | ||
rs2470353 | 0.925 | 0.120 | 3 | 14148768 | intron variant | G/A;C;T | snv | 0.41; 1.5E-04 | 2 | ||
rs3729587 | 0.925 | 0.120 | 3 | 14167125 | intron variant | G/C | snv | 0.31 | 0.34 | 2 | |
rs3731055 | 0.925 | 0.120 | 3 | 14178939 | intron variant | C/T | snv | 1.9E-02 | 2 | ||
rs3731114 | 0.925 | 0.120 | 3 | 14165122 | intron variant | C/G | snv | 1.8E-02 | 2 | ||
rs4927850 | 0.925 | 0.120 | 3 | 196024759 | intron variant | T/C | snv | 0.71 | 2 | ||
rs782095550 | 0.925 | 0.120 | 3 | 51386267 | missense variant | T/C | snv | 2 | |||
rs9854771 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 2 |