Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs374603772 | 0.776 | 0.160 | 1 | 55058630 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 9 | |
rs771541567 | 0.851 | 0.120 | 2 | 21029900 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 | 4 | ||
rs879254464 | 0.882 | 0.120 | 19 | 11102783 | missense variant | T/C | snv | 3 | |||
rs1553384177 | 0.925 | 0.040 | 2 | 21013287 | stop gained | G/C;T | snv | 2 | |||
rs1553385404 | 0.925 | 0.080 | 2 | 21022861 | frameshift variant | G/-;GG | delins | 2 | |||
rs1334979946 | 0.925 | 0.080 | 1 | 62604068 | missense variant | A/C | snv | 2 | |||
rs369067856 | 0.925 | 0.080 | 1 | 55043945 | missense variant | C/A;T | snv | 3.2E-05 | 5.6E-05 | 2 | |
rs775988212 | 0.925 | 0.080 | 1 | 55043976 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs121918383 | 1.000 | 0.040 | 2 | 21013379 | stop gained | G/A;C | snv | 8.0E-06 | 1 | ||
rs121918384 | 1.000 | 0.040 | 2 | 21011301 | frameshift variant | CA/- | delins | 4.0E-06 | 1 | ||
rs121918385 | 1.000 | 0.040 | 2 | 21003241 | frameshift variant | C/- | del | 1 | |||
rs121918386 | 1.000 | 0.040 | 2 | 21010615 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 1 | |
rs121918387 | 1.000 | 0.040 | 2 | 21007668 | frameshift variant | T/- | delins | 1 | |||
rs121918389 | 1.000 | 0.040 | 2 | 21012439 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
rs121918390 | 1.000 | 0.040 | 2 | 21009304 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs1553383898 | 1.000 | 0.040 | 2 | 21011630 | stop gained | A/C | snv | 1 | |||
rs1553384441 | 1.000 | 0.040 | 2 | 21015144 | stop gained | TAGCATACATAT/CCTAAG | delins | 1 | |||
rs281865425 | 1.000 | 0.040 | 2 | 21011602 | frameshift variant | TTGT/- | delins | 1 | |||
rs387906569 | 1.000 | 0.040 | 2 | 21004451 | splice acceptor variant | C/- | delins | 1 | |||
rs397514255 | 1.000 | 0.040 | 2 | 21011405 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
rs397514256 | 1.000 | 0.040 | 2 | 21012516 | frameshift variant | C/- | delins | 1 | |||
rs587776852 | 1.000 | 0.040 | 2 | 21005156 | frameshift variant | G/- | del | 4.0E-06 | 1.4E-05 | 1 | |
rs606231236 | 1.000 | 0.040 | 2 | 21033517 | splice acceptor variant | -/CC | delins | 1 | |||
rs759934326 | 1.000 | 0.040 | 2 | 21006235 | stop gained | C/A;T | snv | 4.0E-06 | 1 |