| 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 | 13 | 51949721 | missense variant | A/C | snv | 3.6E-05 | 7.0E-05 | 0.700 | 1.000 | 20 | 1995 | 2015 | |||
|
1 | 1.000 | 0.160 | 13 | 51958360 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2015 | ||||
|
1 | 1.000 | 0.160 | 13 | 51965038 | splice region variant | A/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1995 | 2014 | |||
|
1 | 1.000 | 0.160 | 13 | 51937663 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51944278 | missense variant | A/C | snv | 0.700 | 1.000 | 2 | 2008 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51974570 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.160 | 13 | 51964924 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51957514 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51935599 | missense variant | A/C;G | snv | 0.700 | 1.000 | 23 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51958552 | splice region variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 13 | 51949764 | missense variant | A/C;G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51944303 | non coding transcript exon variant | A/C;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 4 | 2002 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 51942493 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 | 0.810 | 1.000 | 34 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51950277 | missense variant | A/G | snv | 0.800 | 1.000 | 28 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51958543 | missense variant | A/G | snv | 4.9E-05 | 0.820 | 1.000 | 27 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51944224 | missense variant | A/G | snv | 7.0E-06 | 0.810 | 1.000 | 26 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51941131 | missense variant | A/G | snv | 0.800 | 1.000 | 24 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51944281 | missense variant | A/G | snv | 0.700 | 1.000 | 23 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51946360 | missense variant | A/G | snv | 1.6E-05 | 0.700 | 1.000 | 23 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51942518 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2015 | ||||
|
1 | 1.000 | 0.160 | 13 | 51937383 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 1.000 | 20 | 1995 | 2015 | ||||
|
1 | 1.000 | 0.160 | 13 | 51946357 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2015 | ||||
|
1 | 1.000 | 0.160 | 13 | 51941194 | missense variant | A/G | snv | 4.0E-05 | 3.5E-05 | 0.810 | 1.000 | 16 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51961861 | missense variant | A/G | snv | 4.9E-04 | 5.8E-04 | 0.700 | 1.000 | 3 | 2008 | 2017 |