Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs757786591 | 2 | 218890134 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 1 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 19 | |||
rs367569800 | 3 | 127014358 | missense variant | G/A;C | snv | 6.7E-05; 1.0E-04 | 1 | ||||
rs763116801 | 3 | 189869342 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 1 | ||||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs1870377 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 25 | |
rs4648068 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 9 | ||
rs4024 | 0.827 | 0.120 | 4 | 73435667 | intron variant | G/A | snv | 0.52 | 7 | ||
rs737241 | 0.827 | 0.120 | 4 | 73451012 | intron variant | G/A;C | snv | 7 | |||
rs3130 | 0.882 | 0.080 | 4 | 15968315 | 3 prime UTR variant | T/A;C | snv | 6 | |||
rs11099592 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 5 | |
rs1329032366 | 0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs750802459 | 1.000 | 0.120 | 4 | 184635342 | frameshift variant | TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- | delins | 5.6E-05 | 2 | ||
rs4328905 | 4 | 83322396 | intron variant | A/G | snv | 0.18 | 0.18 | 1 | |||
rs11064 | 0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 | 9 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1801270 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 22 | ||
rs3798577 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 16 | ||
rs1057519788 | 0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv | 6 | |||
rs1383618437 | 6 | 30627473 | missense variant | C/A | snv | 4.0E-06 | 1 | ||||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 |