Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | X | 108695350 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1 | 16049884 | stop gained | -/AATA | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 22 | 36265940 | synonymous variant | T/G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 22 | 36265812 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.040 | 10 | 16905665 | intron variant | G/A | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
4 | X | 108595507 | coding sequence variant | AAGGTGACA/- | delins | 0.700 | 0 | ||||||||||
|
5 | 0.925 | 0.160 | 2 | 169154475 | stop gained | T/A;C | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 2 | 227295295 | inframe insertion | -/AGG | delins | 7.0E-06 | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | X | 108667167 | synonymous variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2004 | 2007 | |||||
|
6 | 0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 2 | 97732893 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.160 | 11 | 32417631 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 2 | 97734709 | missense variant | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | X | 108597479 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 17 | 56848773 | stop gained | G/A | snv | 9.1E-05 | 1.5E-04 | 0.700 | 0 |