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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 2106622 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2117568 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2118021 | missense variant | C/A;T | snv | 2.5E-03; 1.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2104572 | missense variant | A/C;G;T | snv | 1.1E-03; 1.6E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2099931 | missense variant | C/T | snv | 1.8E-05 | 2.8E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2112360 | missense variant | A/G | snv | 7.2E-02 | 0.21 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2097912 | missense variant | C/T | snv | 8.1E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2102629 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2103652 | missense variant | G/A | snv | 6.5E-05 | 4.9E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2106665 | missense variant | G/A | snv | 8.4E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2111671 | missense variant | C/T | snv | 6.5E-05 | 2.8E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2103485 | missense variant | C/T | snv | 5.5E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2097890 | missense variant | G/A;C;T | snv | 2.8E-05; 9.7E-05; 4.1E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2109736 | missense variant | C/T | snv | 3.3E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2097971 | missense variant | G/A | snv | 4.4E-06 | 1.4E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2093828 | missense variant | C/T | snv | 2.9E-05 | 3.5E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2135508 | missense variant | G/A | snv | 6.3E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2111442 | missense variant | G/A | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2100027 | inframe deletion | GCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2111624 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2117579 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2108743 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2100396 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090418 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2097725 | splice donor variant | AC/- | delins | 0.700 | 0 |