Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1445182466 | 1.000 | 0.040 | 6 | 116809366 | missense variant | G/A | snv | 1 | |||
rs281865427 | 1.000 | 0.040 | 4 | 67754305 | missense variant | GA/TT | mnv | 1 | |||
rs727505377 | 1.000 | 0.040 | 8 | 38414001 | missense variant | A/G | snv | 1 | |||
rs797044452 | 1.000 | 0.040 | 4 | 67744788 | splice acceptor variant | C/T | snv | 1 | |||
rs886907903 | 1.000 | 0.040 | 4 | 67754226 | missense variant | A/C | snv | 1 | |||
rs876661330 | 0.882 | 0.160 | 10 | 101771522 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs1363196459 | 0.882 | 0.040 | 4 | 147486001 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs28933074 | 1.000 | 0.040 | 4 | 67740616 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1391808526 | 1.000 | 0.040 | 4 | 67754089 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1359519711 | 1.000 | 0.040 | 16 | 30117672 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs764654861 | 1.000 | 0.040 | 11 | 86951995 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs727505375 | 1.000 | 0.040 | 4 | 103658329 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1224900173 | 1.000 | 0.040 | 4 | 147519933 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1472692670 | 1.000 | 0.040 | 4 | 69849453 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
rs104893838 | 1.000 | 0.040 | 4 | 67753950 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 1 | ||
rs753272921 | 1.000 | 0.040 | 2 | 42763741 | frameshift variant | G/- | delins | 4.0E-06 | 1 | ||
rs769742678 | 1.000 | 0.040 | 4 | 103719502 | synonymous variant | C/G | snv | 4.0E-06 | 1 | ||
rs727505371 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 2 | ||
rs74452732 | 0.851 | 0.160 | 4 | 67753825 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs775830195 | 1.000 | 0.040 | 19 | 920520 | stop gained | C/A;T | snv | 4.2E-06 | 1 | ||
rs148499544 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 3 | |
rs774526181 | 0.882 | 0.200 | 12 | 106427360 | splice donor variant | T/C | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs376239580 | 0.925 | 0.040 | 20 | 5302632 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs606231407 | 1.000 | 0.040 | 10 | 101770613 | missense variant | C/T | snv | 1.6E-05 | 2 | ||
rs781328162 | 0.925 | 0.160 | 8 | 38413714 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 2 |