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 | 0.925 | 0.120 | 1 | 155238194 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.160 | 1 | 155235195 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 1 | 155235760 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
2 | 0.925 | 0.120 | 1 | 155237470 | missense variant | G/T | snv | 0.800 | 1.000 | 2 | 1999 | 2002 | |||||
|
1 | 1.000 | 0.120 | 1 | 155236420 | missense variant | T/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
8 | 0.776 | 0.160 | 1 | 155240629 | splice donor variant | C/A;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.120 | 1 | 155238192 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 1 | 155236277 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 155238572 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 0.700 | 0 | ||||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.160 | 1 | 155237453 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 1 | 155238629 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 1 | 155238596 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 1 | 155235750 | frameshift variant | ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 |