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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.240 | 9 | 32984704 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.320 | 11 | 108244812 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 3 | 47846550 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.360 | 2 | 231737190 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.360 | 18 | 6985616 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.240 | 9 | 32984784 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.240 | 9 | 32974544 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.200 | 9 | 32973507 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.320 | 11 | 94476318 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |