Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913226 | 1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del | 1 | |||
rs1131692058 | 1.000 | 0.080 | 7 | 140734769 | splice acceptor variant | TCTACA/- | delins | 1 | |||
rs397516890 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 1 | |||
rs397516897 | 1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del | 1 | |||
rs387906661 | 0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv | 6 | |||
rs727504375 | 0.925 | 0.200 | 7 | 140778059 | missense variant | T/G | snv | 2 | |||
rs121913335 | 7 | 140753375 | missense variant | T/G | snv | 1 | |||||
rs397507465 | 1.000 | 0.160 | 7 | 140801542 | missense variant | T/G | snv | 1 | |||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs121913370 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 10 | |||
rs180177040 | 0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv | 9 | |||
rs397516904 | 0.925 | 0.200 | 7 | 140801487 | missense variant | T/C;G | snv | 2 | |||
rs397507474 | 1.000 | 0.160 | 7 | 140778061 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs1057519719 | 1.000 | 0.080 | 7 | 140781593 | missense variant | T/C | snv | 2 | |||
rs756706958 | 0.925 | 0.080 | 7 | 140776967 | missense variant | T/C | snv | 2 | |||
rs775040765 | 1.000 | 7 | 140800366 | missense variant | T/C | snv | 8.0E-05 | 1.4E-05 | 2 | ||
rs121913362 | 7 | 140753359 | missense variant | T/C | snv | 1 | |||||
rs121913363 | 1.000 | 0.040 | 7 | 140753361 | missense variant | T/C | snv | 1 | |||
rs1267636 | 1.000 | 0.080 | 7 | 140792239 | intron variant | T/C | snv | 0.11 | 1 | ||
rs1562957000 | 1.000 | 7 | 140781621 | missense variant | T/C | snv | 1 | ||||
rs180177037 | 1.000 | 0.160 | 7 | 140778013 | missense variant | T/C | snv | 1 | |||
rs397507486 | 1.000 | 0.160 | 7 | 140739813 | missense variant | T/C | snv | 1 | |||
rs7810757 | 1.000 | 0.080 | 7 | 140925302 | upstream gene variant | T/C | snv | 0.15 | 1 | ||
rs121913365 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 10 |