Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918130 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 18 | ||
rs281865192 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 11 | ||
rs727503855 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 6 | ||
rs777686211 | 0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 | 5 | ||
rs757208121 | 0.882 | 0.200 | 4 | 15527564 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs794729195 | 0.925 | 0.240 | 6 | 135455873 | frameshift variant | G/- | delins | 2 | |||
rs794729225 | 1.000 | 0.160 | 4 | 15587843 | inframe deletion | GAA/- | delins | 4.0E-06 | 7.0E-06 | 2 | |
rs886042153 | 0.925 | 0.160 | 12 | 88106770 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 2 | |
rs863225154 | 0.925 | 0.160 | 5 | 37122429 | splice donor variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 2 | ||
rs771866500 | 0.925 | 0.160 | 9 | 136431102 | missense variant | C/G | snv | 4.0E-05 | 7.0E-06 | 2 | |
rs121918128 | 1.000 | 0.160 | 9 | 136430391 | missense variant | C/T | snv | 6.1E-06 | 7.0E-06 | 1 | |
rs121918129 | 1.000 | 0.160 | 9 | 136432562 | missense variant | C/T | snv | 3.2E-05 | 1 | ||
rs13297509 | 1.000 | 0.160 | 9 | 136431830 | missense variant | G/A;T | snv | 3.8E-05 | 1 | ||
rs374152018 | 1.000 | 0.160 | 9 | 136431839 | missense variant | G/A;C | snv | 2.9E-05; 4.1E-06 | 1 | ||
rs746212325 | 1.000 | 0.160 | 9 | 136434769 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 1 | ||
rs746867724 | 1.000 | 0.160 | 9 | 136431090 | missense variant | G/A | snv | 2.8E-05 | 1 | ||
rs752300607 | 1.000 | 0.160 | 9 | 136430325 | missense variant | C/T | snv | 5.7E-05 | 4.9E-05 | 1 | |
rs754637179 | 1.000 | 0.160 | 9 | 136434127 | missense variant | G/A | snv | 3.4E-05 | 2.1E-05 | 1 | |
rs757222534 | 1.000 | 0.160 | 9 | 136431905 | missense variant | C/A;T | snv | 4.1E-06 | 1 | ||
rs757936530 | 1.000 | 0.160 | 9 | 136434820 | missense variant | C/T | snv | 4.1E-06 | 1.4E-05 | 1 | |
rs763992407 | 1.000 | 0.160 | 9 | 136430326 | missense variant | G/A | snv | 2.5E-05 | 2.1E-05 | 1 | |
rs775518991 | 1.000 | 0.160 | 9 | 136430319 | frameshift variant | A/- | del | 1.3E-05 | 2.1E-05 | 1 | |
rs780882740 | 1.000 | 0.160 | 9 | 136434050 | missense variant | C/T | snv | 8.3E-06 | 1 | ||
rs863225197 | 1.000 | 0.160 | 9 | 136430395 | missense variant | T/C | snv | 1 | |||
rs863225198 | 1.000 | 0.160 | 9 | 136433250 | missense variant | G/A | snv | 2.8E-05 | 1 |