Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386833740 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 2 | ||
rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
rs546989392 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 2 | |
rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 | |||
rs154774640 | 0.925 | 0.120 | 15 | 68218584 | stop gained | G/C | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs768422260 | 0.925 | 0.120 | 15 | 68208280 | inframe deletion | GAG/- | delins | 1.4E-05 | 2 | ||
rs774543080 | 0.925 | 0.120 | 15 | 68211765 | frameshift variant | AG/- | delins | 8.0E-06 | 2 | ||
rs144495588 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 2 | ||
rs587776892 | 0.925 | 0.120 | 20 | 63930871 | inframe deletion | CTC/- | delins | 2 | |||
rs104894385 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 2 | ||
rs28940280 | 0.925 | 0.120 | 13 | 77000580 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs386833966 | 0.925 | 0.120 | 13 | 77000824 | frameshift variant | T/- | delins | 2 | |||
rs386833967 | 0.925 | 0.120 | 13 | 77000845 | frameshift variant | AACA/- | delins | 2.8E-05 | 2 | ||
rs386833969 | 0.925 | 0.120 | 13 | 77000918 | frameshift variant | AT/- | delins | 2 | |||
rs386833979 | 0.925 | 0.120 | 13 | 76996083 | frameshift variant | -/C | delins | 2 | |||
rs386833980 | 0.925 | 0.120 | 13 | 76996086 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs786204644 | 0.925 | 0.120 | 13 | 77000667 | frameshift variant | AT/- | delins | 2 | |||
rs63751177 | 1.000 | 0.120 | 17 | 44351438 | stop gained | G/A | snv | 2 | |||
rs140948465 | 0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs587778809 | 0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 | 2 | |
rs386833634 | 0.925 | 0.120 | 1 | 40092462 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06; 4.0E-06 | 1.4E-05 | 2 | |
rs386833645 | 0.925 | 0.120 | 1 | 40097236 | start lost | C/T | snv | 1.4E-05 | 2 | ||
rs386833651 | 0.925 | 0.120 | 1 | 40089409 | splice donor variant | C/T | snv | 2 | |||
rs386833659 | 0.925 | 0.120 | 1 | 40078659 | splice acceptor variant | C/A;T | snv | 4.0E-06 | 2 |