Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518681 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 7 | |||
rs1085307132 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 5 | |||
rs1085307138 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 9 | |||
rs1085307139 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 5 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs1114167294 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 4 | ||||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 | |||
rs1554641549 | 0.925 | 0.080 | 8 | 143816613 | frameshift variant | TGGCCTTATGA/- | delins | 3 | |||
rs1554643142 | 0.925 | 0.120 | 8 | 143818042 | frameshift variant | CCTGCCCTATGTTGCTGGG/- | delins | 4 | |||
rs1554817910 | 1.000 | 10 | 79216266 | missense variant | A/G | snv | 4 | ||||
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs559979281 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 23 | ||
rs587782995 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 42 | |||
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs869312823 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 9 | |||
rs869312824 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 13 | |||
rs886043994 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 21 | |||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs772037717 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 8 |