Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs12711521 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 7 | |
rs1308699981 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs587776632 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 2 | |||
rs372411058 | 1.000 | 0.120 | 1 | 161626395 | synonymous variant | C/T | snv | 2.0E-05 | 4.2E-05 | 1 | |
rs587776633 | 1.000 | 0.120 | 1 | 85270732 | frameshift variant | -/T | delins | 1 | |||
rs587776634 | 1.000 | 0.120 | 1 | 85267788 | frameshift variant | TGCCTACTTCTAGAACA/- | del | 1 | |||
rs587776635 | 1.000 | 0.120 | 1 | 85267919 | frameshift variant | T/- | delins | 1 | |||
rs587776636 | 1.000 | 0.120 | 1 | 85267930 | frameshift variant | -/A | delins | 1 | |||
rs587776637 | 1.000 | 0.120 | 1 | 85267692 | inframe deletion | TCT/- | delins | 1 | |||
rs10190751 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 4 | |
rs3789068 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 2 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs6444305 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 2 | |||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs1494555 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 8 | |
rs1056503 | 0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 | 4 | ||
rs9275572 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 15 | |||
rs9268853 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 10 | ||
rs2647012 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 7 |