| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 12 | 950115 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 151270497 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 4 | 121673909 | intron variant | T/C | snv | 8.3E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 15466782 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 14 | 22780330 | non coding transcript exon variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 14 | 22788107 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.280 | 2 | 54248777 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 7 | 55125270 | intron variant | T/G | snv | 0.51 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 22779374 | intron variant | C/T | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 6 | 159692718 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 125644174 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 55900892 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 3 | 49358221 | missense variant | A/C;T | snv | 6.8E-06; 6.8E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |