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 | 2105425 | missense variant | T/C | snv | 4.4E-02 | 0.19 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 2102386 | missense variant | A/G | snv | 0.16 | 0.25 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 16 | 2090962 | frameshift variant | AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT | delins | 0.700 | 0 | ||||||||
|
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 | 2093954 | missense variant | C/A;G;T | snv | 9.8E-06; 4.9E-06; 2.2E-03 | 0.700 | 0 | |||||||
|
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 | 2097971 | missense variant | G/A | snv | 4.4E-06 | 1.4E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
2 | 1.000 | 0.120 | 16 | 2097376 | stop gained | C/A;T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
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 | |||
|
2 | 0.925 | 0.120 | 16 | 2093917 | inframe insertion | AGCCAC/-;AGCCACAGCCAC | delins | 0.700 | 0 | ||||||||
|
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 | 2105867 | stop gained | C/A;G;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2106022 | missense variant | G/C | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
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 | 2103390 | missense variant | G/C | snv | 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2102889 | stop gained | G/A;C;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2093032 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 16 | 2116917 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
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 | 2108868 | stop gained | G/A;T | snv | 8.8E-05 | 0.700 | 0 | |||||||
|
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 | 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 | 2105401 | missense variant | A/G | snv | 2.3E-04 | 2.8E-04 | 0.700 | 0 | ||||||
|
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 | 2097912 | missense variant | C/T | snv | 8.1E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 |