Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039958 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 3 | |||
rs398122697 | 0.925 | 0.080 | 17 | 43049170 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs1060915 | 1.000 | 0.080 | 17 | 43082453 | synonymous variant | A/G | snv | 0.35 | 0.30 | 1 | |
rs397509062 | 1.000 | 0.080 | 17 | 43104223 | missense variant | A/G | snv | 1 | |||
rs530464947 | 1.000 | 0.080 | 17 | 43092137 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 | 1 | |
rs80357007 | 1.000 | 0.080 | 17 | 43051107 | missense variant | C/A;T | snv | 1 | |||
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 43 | |
rs41293475 | 0.882 | 0.080 | 13 | 32332629 | missense variant | C/G;T | snv | 7.6E-04 | 3 | ||
rs80358505 | 1.000 | 0.080 | 13 | 32319249 | missense variant | A/G;T | snv | 1 | |||
rs28904921 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 12 | |
rs4645959 | 0.882 | 0.080 | 8 | 127738294 | missense variant | A/C;G | snv | 1.6E-05; 2.3E-02 | 3 | ||
rs3112612 | 0.882 | 0.080 | 16 | 52601252 | intron variant | G/A | snv | 0.44 | 3 | ||
rs13010627 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 10 | |
rs1045485 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 34 | ||
rs566164 | 1.000 | 0.080 | 6 | 109185258 | intron variant | A/G | snv | 0.73 | 2 | ||
rs878853646 | 0.882 | 0.080 | 9 | 21971106 | missense variant | C/A;T | snv | 4.3E-06; 8.6E-06 | 3 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs140510218 | 1.000 | 0.080 | 16 | 67621458 | synonymous variant | A/G | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs996659898 | 1.000 | 0.080 | 20 | 57500314 | missense variant | G/C | snv | 1 | |||
rs770140945 | 0.882 | 0.200 | 15 | 74720665 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs56343424 | 1.000 | 0.080 | 15 | 74720496 | missense variant | C/A;T | snv | 2.1E-03; 3.3E-05 | 1 | ||
rs28359178 | 0.882 | 0.280 | MT | 13708 | missense variant | G/A | snv | 3 | |||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs1058808 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 27 | |
rs1801201 | 1.000 | 0.080 | 17 | 39723332 | missense variant | A/C;G | snv | 4.0E-06; 4.9E-03 | 1 |