Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs199469465 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 50 | |||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 45 | ||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs121918467 | 0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 23 | ||
rs886043994 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 21 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs587783446 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 19 | |||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs672601334 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 18 | |||
rs730881014 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 15 | |||
rs142110773 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 13 | |
rs1334099693 | 0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 | 11 | ||
rs1562171209 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 9 | |||
rs1562203136 | 0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins | 9 | |||
rs1057518864 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 7 | ||||
rs1554617582 | 0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins | 6 |