Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs769742678 | 1.000 | 0.040 | 4 | 103719502 | synonymous variant | C/G | snv | 4.0E-06 | 1 | ||
rs774317793 | 1.000 | 0.040 | 4 | 67754283 | missense variant | T/C | snv | 1.9E-04 | 2.1E-05 | 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 | |||
rs1445182466 | 1.000 | 0.040 | 6 | 116809366 | missense variant | G/A | snv | 1 | |||
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs730882248 | 0.925 | 0.160 | 7 | 5711761 | splice region variant | C/T | snv | 2 | |||
rs121909641 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 9 | |||
rs121909628 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;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 | |||
rs727505373 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 3 | |||
rs121909640 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 2 | |||
rs727505370 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 2 | |||
rs727505371 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 2 | ||
rs727505376 | 0.925 | 0.160 | 8 | 38414279 | missense variant | C/G;T | snv | 2 | |||
rs781328162 | 0.925 | 0.160 | 8 | 38413714 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 2 | |
rs1064793123 | 1.000 | 0.040 | 8 | 38421859 | missense variant | G/A | snv | 1 | |||
rs727505377 | 1.000 | 0.040 | 8 | 38414001 | missense variant | A/G | snv | 1 | |||
rs121918340 | 0.925 | 0.040 | 9 | 137449656 | missense variant | T/C | snv | 2 | |||
rs876661330 | 0.882 | 0.160 | 10 | 101771522 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs606231407 | 1.000 | 0.040 | 10 | 101770613 | missense variant | C/T | snv | 1.6E-05 | 2 | ||
rs764654861 | 1.000 | 0.040 | 11 | 86951995 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
rs727505372 | 0.925 | 0.040 | 12 | 57013359 | missense variant | G/T | snv | 3 |