Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386833969 | 0.925 | 0.120 | 13 | 77000918 | frameshift variant | AT/- | delins | 2 | |||
rs386833967 | 0.925 | 0.120 | 13 | 77000845 | frameshift variant | AACA/- | delins | 2.8E-05 | 2 | ||
rs386833966 | 0.925 | 0.120 | 13 | 77000824 | frameshift variant | T/- | delins | 2 | |||
rs786204644 | 0.925 | 0.120 | 13 | 77000667 | frameshift variant | AT/- | delins | 2 | |||
rs28940280 | 0.925 | 0.120 | 13 | 77000580 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs386833980 | 0.925 | 0.120 | 13 | 76996086 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs386833979 | 0.925 | 0.120 | 13 | 76996083 | frameshift variant | -/C | delins | 2 | |||
rs546989392 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 2 | |
rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
rs794729218 | 1.000 | 0.120 | 13 | 76995933 | frameshift variant | G/- | del | 1 | |||
rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
rs1555273881 | 1.000 | 0.120 | 13 | 76995075 | frameshift variant | C/- | delins | 1 | |||
rs1555273604 | 1.000 | 0.120 | 13 | 76992207 | frameshift variant | -/ATCCGGGCTGG | delins | 1 | |||
rs104894385 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 2 | ||
rs154774640 | 0.925 | 0.120 | 15 | 68218584 | stop gained | G/C | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs104894483 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 3 | ||
rs397515352 | 0.925 | 0.120 | 15 | 68211844 | frameshift variant | -/G | delins | 2.4E-05; 2.8E-05 | 3 | ||
rs774543080 | 0.925 | 0.120 | 15 | 68211765 | frameshift variant | AG/- | delins | 8.0E-06 | 2 | ||
rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 | |||
rs768422260 | 0.925 | 0.120 | 15 | 68208280 | inframe deletion | GAG/- | delins | 1.4E-05 | 2 | ||
rs750033880 | 0.925 | 0.120 | 7 | 66633302 | missense variant | G/A | snv | 1.4E-05 | 3 | ||
rs746085696 | 1.000 | 0.120 | 11 | 6619191 | splice region variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs1060502179 | 1.000 | 0.120 | 11 | 6618823 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
rs1554902216 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 2 | |||
rs759080581 | 1.000 | 0.120 | 11 | 6618809 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 |