| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 |
|
0.050 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
0.827 | 0.040 | 1 | 165717968 | TF binding site variant | G/A | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 3 | 183978614 | synonymous variant | A/G | snv | 0.58 | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 3 | 183967746 | stop gained | A/G;T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 32545090 | intron variant | A/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 10 | 49687724 | intron variant | G/A | snv | 0.95 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.925 | 0.040 | 2 | 187394177 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.040 | 2 | 187373374 | intron variant | T/C | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.040 | 2 | 187365606 | intron variant | A/T | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 |
|
0.080 | 1.000 | 8 | 2013 | 2019 | |||||||
|
0.925 | 0.040 | 1 | 102927901 | intron variant | C/T | snv | 0.52 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.925 | 0.040 | 9 | 127940198 | non coding transcript exon variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 14 | 52944673 | intron variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.925 | 0.040 | 9 | 4217028 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.925 | 0.040 | 7 | 81735119 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||||
|
0.925 | 0.040 | 7 | 81734871 | intron variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.040 | 7 | 81718232 | intron variant | T/G | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 3 | 184034985 | intron variant | G/A | snv | 6.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.040 | 10 | 68241124 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 1 | 102839465 | intron variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |