Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs777418530 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 10 | |
rs371282890 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 6 | |
rs773891125 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 6 | |||
rs497078 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 2 | ||
rs17107315 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 40 | |
rs61734659 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 8 | ||
rs748405415 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 8 | |||
rs752688735 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 2 | |||
rs111033565 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 11 | ||
rs267606982 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 11 | |||
rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
rs111033566 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 11 | |||
rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 | |||
rs213950 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 16 | |
rs78655421 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 18 | ||
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs7057398 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 5 |