Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs121909641 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 9 | |||
rs1057518936 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 3 | |||
rs121909628 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;C | snv | 3 | |||
rs28939719 | 0.882 | 0.040 | 19 | 919563 | missense variant | T/C | snv | 3 | |||
rs515726224 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 3 | |||
rs727505369 | 0.925 | 0.160 | 8 | 38424624 | missense variant | T/C | snv | 3 | |||
rs727505372 | 0.925 | 0.040 | 12 | 57013359 | missense variant | G/T | snv | 3 | |||
rs727505373 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 3 | |||
rs970697573 | 0.882 | 0.040 | 19 | 19626965 | missense variant | C/T | snv | 3 | |||
rs104894701 | 0.925 | 0.040 | 19 | 920542 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs121909640 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 2 | |||
rs121918340 | 0.925 | 0.040 | 9 | 137449656 | missense variant | T/C | snv | 2 | |||
rs727505367 | 1.000 | 0.040 | 4 | 67753986 | missense variant | A/C | snv | 1.4E-05 | 2 | ||
rs727505370 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 2 | |||
rs727505374 | 1.000 | 0.040 | X | 8539744 | stop gained | G/A | snv | 2 | |||
rs727505376 | 0.925 | 0.160 | 8 | 38414279 | missense variant | C/G;T | snv | 2 | |||
rs730882248 | 0.925 | 0.160 | 7 | 5711761 | splice region variant | C/T | snv | 2 | |||
rs104893839 | 1.000 | 0.040 | 4 | 67744659 | missense variant | G/T | snv | 1 | |||
rs104893840 | 1.000 | 0.040 | 4 | 67753832 | missense variant | A/T | snv | 1 | |||
rs104893841 | 1.000 | 0.040 | 4 | 67740526 | stop gained | A/T | snv | 1 | |||
rs104893847 | 1.000 | 0.040 | 4 | 67740508 | missense variant | G/A | snv | 1 | |||
rs1064793123 | 1.000 | 0.040 | 8 | 38421859 | missense variant | G/A | snv | 1 | |||
rs1396024828 | 1.000 | 0.040 | 12 | 57013615 | synonymous variant | C/A | snv | 1 | |||
rs1406099149 | 1.000 | 0.040 | 12 | 57013617 | synonymous variant | G/A | snv | 1 |