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 | 0.160 | 9 | 97687096 | missense variant | C/G | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 6 | 1992 | 2015 | |||
|
1 | 1.000 | 0.160 | 9 | 97687262 | splice acceptor variant | C/G | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.160 | 9 | 97689600 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 1992 | 1999 | ||||
|
1 | 1.000 | 0.160 | 9 | 97675530 | missense variant | T/C | snv | 1.3E-04 | 7.7E-05 | 0.700 | 1.000 | 5 | 1992 | 1999 | |||
|
2 | 0.925 | 0.160 | 9 | 97675579 | stop gained | G/A | snv | 3.0E-04 | 3.2E-04 | 0.700 | 1.000 | 4 | 1992 | 2010 | |||
|
2 | 0.925 | 0.160 | 9 | 97684965 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1992 | 2017 | ||||
|
2 | 1.000 | 0.160 | 9 | 97684977 | stop gained | G/A | snv | 2.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2017 | ||||
|
2 | 0.925 | 0.160 | 9 | 97689570 | frameshift variant | TAAGA/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2009 | 2015 | |||
|
2 | 0.925 | 0.160 | 9 | 97684929 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 1995 | 1998 | |||||
|
2 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.160 | 9 | 97687200 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.160 | 9 | 97687222 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 9 | 97675486 | frameshift variant | -/A | delins | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.160 | 9 | 97689585 | stop gained | ATAA/TTTCTTATG | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 9 | 97684921 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 97689575 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 97684947 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 97687191 | stop gained | CA/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 9 | 97697291 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 97687118 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 97675528 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 97675584 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 97684964 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 97684994 | frameshift variant | CT/- | delins | 0.700 | 0 |