Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs104893915 | 0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 | 10 | |
rs104894094 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 12 | ||
rs104894635 | 0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 | 4 | ||
rs104894639 | 0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 | 3 | |
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1057519430 | 0.925 | X | 41346946 | missense variant | C/T | snv | 5 | ||||
rs1057521083 | 0.925 | 0.200 | 2 | 199348709 | missense variant | G/A | snv | 4 | |||
rs1060501198 | 0.925 | 0.040 | 17 | 7674900 | missense variant | T/C;G | snv | 3 | |||
rs1064795935 | 1.000 | 13 | 110181389 | missense variant | C/T | snv | 3 | ||||
rs1064796453 | 3 | 41235799 | stop gained | C/A;T | snv | 2 | |||||
rs1064797245 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 12 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs1131691608 | 1.000 | X | 41346503 | splice acceptor variant | A/G | snv | 2 | ||||
rs1131691712 | 19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 | 1 | ||||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs113994048 | 1.000 | 0.040 | 3 | 184136734 | missense variant | A/T | snv | 4.4E-05 | 2.1E-05 | 2 | |
rs11558538 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 19 | |
rs1156904586 | 1.000 | 13 | 25577115 | frameshift variant | -/T | delins | 1.4E-05 | 3 | |||
rs1161032867 | 16 | 31191070 | frameshift variant | G/-;GGGG | delins | 1 | |||||
rs118161496 | 1.000 | 0.040 | 14 | 31850092 | non coding transcript exon variant | T/C | snv | 3.4E-03 | 3.4E-03 | 2 | |
rs119476050 | 1.000 | 0.080 | 14 | 50628154 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1213060424 | X | 70449787 | stop gained | C/A;T | snv | 2 | |||||
rs121434376 | 1.000 | 0.080 | 9 | 132327511 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 2 |