Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267608597 | 0.882 | 0.080 | X | 154030665 | stop gained | GG/TA | mnv | 4 | |||
rs61748396 | 0.882 | 0.080 | X | 154031405 | stop gained | G/C;T | snv | 4 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 | |||
rs267606827 | 0.925 | 0.120 | 14 | 28768203 | stop gained | G/A | snv | 3 | |||
rs79667838 | 0.882 | 0.120 | X | 16150432 | missense variant | C/T | snv | 3.0E-04 | 4.8E-04 | 3 | |
rs267608426 | 0.882 | 0.080 | X | 154032473 | frameshift variant | TCTT/- | delins | 3 | |||
rs61748404 | 0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv | 3 | |||
rs61748411 | 0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv | 3 | |||
rs61749735 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 3 | ||
rs61751367 | 0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv | 3 | |||
rs61751443 | 0.925 | 0.080 | X | 154030911 | missense variant | C/A;G;T | snv | 3 | |||
rs63749748 | 0.882 | 0.080 | X | 154030628 | splice acceptor variant | TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- | delins | 3 | |||
rs1397094538 | 0.925 | 0.120 | 1 | 23367044 | missense variant | A/T | snv | 4.0E-06 | 3 | ||
rs118203984 | 0.925 | 0.160 | 6 | 24528049 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 2 | |
rs267608437 | 0.925 | 0.200 | X | 18575407 | missense variant | C/T | snv | 2 | |||
rs766475539 | 1.000 | 0.080 | X | 18588118 | missense variant | G/C | snv | 2 | |||
rs138747073 | 0.925 | 0.120 | 14 | 28768479 | stop gained | C/A;G;T | snv | 6.0E-05 | 2 | ||
rs922847767 | 0.925 | 0.080 | 9 | 98371535 | missense variant | C/T | snv | 2 | |||
rs1557135793 | 0.925 | 0.080 | X | 154030691 | frameshift variant | G/-;GG | delins | 2 | |||
rs1557136332 | 0.925 | 0.080 | X | 154030988 | frameshift variant | G/- | delins | 2 | |||
rs267608428 | 0.925 | 0.080 | X | 154032464 | frameshift variant | CT/- | delins | 2 | |||
rs267608434 | 0.925 | 0.080 | X | 154032416 | frameshift variant | GG/- | delins | 2 | |||
rs267608469 | 0.925 | 0.080 | X | 154031446 | stop gained | G/A;C | snv | 2 | |||
rs267608475 | 0.925 | 0.120 | X | 154031415 | stop gained | A/G;T | snv | 2 | |||
rs267608488 | 0.925 | 0.080 | X | 154031339 | frameshift variant | CC/- | delins | 2 |