Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796052676 | 0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv | 10 | |||
rs118192211 | 0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv | 9 | |||
rs117067974 | 0.851 | 0.080 | 20 | 63414174 | missense variant | C/A;G | snv | 2.0E-05; 2.6E-03 | 5 | ||
rs1162306056 | 0.882 | 0.080 | 8 | 132174294 | missense variant | C/T | snv | 5 | |||
rs118192250 | 0.851 | 0.120 | 8 | 132175457 | missense variant | C/A | snv | 5 | |||
rs74315392 | 0.851 | 0.080 | 20 | 63442482 | stop gained | G/A;C;T | snv | 4 | |||
rs118192202 | 0.882 | 0.080 | 20 | 63444714 | missense variant | T/A;C | snv | 3 | |||
rs118192235 | 0.882 | 0.080 | 20 | 63413471 | missense variant | C/A;T | snv | 3 | |||
rs118192247 | 0.882 | 0.080 | 8 | 132175491 | missense variant | C/T | snv | 3 | |||
rs118192249 | 0.882 | 0.080 | 8 | 132175461 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs749205120 | 1.000 | 0.080 | 8 | 132180245 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
rs267607198 | 0.882 | 0.080 | 20 | 63413551 | missense variant | C/A;T | snv | 3 | |||
rs118192251 | 0.925 | 0.080 | 8 | 132174295 | missense variant | G/A | snv | 2 | |||
rs74582884 | 0.925 | 0.080 | 8 | 132134369 | missense variant | G/A;T | snv | 2.1E-03; 1.2E-05 | 2 | ||
rs118192213 | 1.000 | 0.080 | 20 | 63438708 | frameshift variant | -/C | delins | 1 | |||
rs118192192 | 1.000 | 0.080 | 20 | 63446786 | inframe deletion | CTT/- | del | 1 | |||
rs118192248 | 1.000 | 0.080 | 8 | 132175472 | missense variant | T/A;C | snv | 7.0E-06 | 1 | ||
rs118192252 | 1.000 | 0.080 | 8 | 132141191 | missense variant | T/C | snv | 1.5E-04 | 3.5E-05 | 1 | |
rs118192254 | 1.000 | 0.080 | 8 | 132129419 | missense variant | T/C | snv | 2.2E-04 | 2.2E-04 | 1 | |
rs1554627439 | 1.000 | 0.080 | 8 | 132175487 | missense variant | A/G | snv | 1 |