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 | 9 | 36249334 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246262 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 36227271 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | |||
|
1 | 1.000 | 0.120 | 9 | 36233986 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36222925 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 9 | 36218272 | stop gained | G/C | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 9 | 36246035 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 36223478 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 36234046 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36236946 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36233993 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36246075 | stop gained | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36249361 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 9 | 36276927 | stop gained | A/G;T | snv | 8.1E-06; 2.0E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36246472 | stop gained | G/A | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 9 | 36249352 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 9 | 36217399 | missense variant | A/G | snv | 4.0E-05 | 7.0E-06 | 0.900 | 1.000 | 26 | 2001 | 2017 | |||
|
1 | 1.000 | 0.120 | 9 | 36246120 | missense variant | T/A | snv | 5.2E-05 | 2.8E-05 | 0.820 | 1.000 | 24 | 2001 | 2019 | |||
|
3 | 0.925 | 0.160 | 9 | 36217448 | missense variant | C/A;T | snv | 8.9E-04; 1.7E-03 | 0.810 | 1.000 | 23 | 2001 | 2017 | ||||
|
2 | 0.925 | 0.160 | 9 | 36236865 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 21 | 2001 | 2015 | |||
|
1 | 1.000 | 0.120 | 9 | 36236864 | missense variant | C/G;T | snv | 2.8E-05 | 0.800 | 1.000 | 20 | 2001 | 2016 | ||||
|
2 | 0.925 | 0.160 | 9 | 36218224 | missense variant | G/A | snv | 8.7E-05 | 1.0E-04 | 0.800 | 1.000 | 19 | 2001 | 2014 | |||
|
2 | 0.925 | 0.160 | 9 | 36219894 | missense variant | A/G | snv | 4.0E-06 | 2.8E-05 | 0.810 | 1.000 | 19 | 2001 | 2015 | |||
|
2 | 0.925 | 0.160 | 9 | 36222839 | missense variant | G/A;T | snv | 4.8E-05; 4.0E-06 | 0.800 | 1.000 | 18 | 2001 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246118 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 15 | 2001 | 2015 |