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 | 136432562 | missense variant | C/T | snv | 3.2E-05 | 0.800 | 1.000 | 6 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.160 | 9 | 136430391 | missense variant | C/T | snv | 6.1E-06 | 7.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2017 | |||
|
18 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.160 | 9 | 136434769 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.160 | 9 | 136434820 | missense variant | C/T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 1.000 | 4 | 2009 | 2017 | |||
|
1 | 1.000 | 0.160 | 9 | 136430326 | missense variant | G/A | snv | 2.5E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 2009 | 2017 | |||
|
1 | 1.000 | 0.160 | 9 | 136431090 | missense variant | G/A | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 9 | 136430325 | missense variant | C/T | snv | 5.7E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 9 | 136434127 | missense variant | G/A | snv | 3.4E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 9 | 136431905 | missense variant | C/A;T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 9 | 136431102 | missense variant | C/G | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.160 | 9 | 136430319 | frameshift variant | A/- | del | 1.3E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 9 | 136434050 | missense variant | C/T | snv | 8.3E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 9 | 136430395 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 9 | 136433250 | missense variant | G/A | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 9 | 136429712 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 9 | 136433160 | missense variant | C/G;T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 9 | 136433073 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 9 | 136432986 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 100912217 | missense variant | CA/AG | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 136431830 | missense variant | G/A;T | snv | 3.8E-05 | 0.700 | 0 | |||||||
|
11 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 136431839 | missense variant | G/A;C | snv | 2.9E-05; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 1445219 | missense variant | G/A;C | snv | 1.3E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 0.700 | 0 |