| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 48099968 | intergenic variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.925 | 0.080 | 6 | 471136 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 14 | 51843386 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 16 | 89919722 | missense variant | T/C | snv | 5.6E-03 | 6.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.080 | 16 | 89919436 | missense variant | G/T | snv | 8.6E-02 | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
5 | 33967040 | intron variant | C/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.080 | 16 | 89960104 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 20 | 34077942 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
17 | 35496079 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
10 | 24918312 | intron variant | G/A | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 48141297 | 3 prime UTR variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 48108002 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
13 | 113165471 | intron variant | A/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 61525012 | intron variant | T/C | snv | 2.5E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 34116821 | upstream gene variant | C/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 13563982 | intergenic variant | T/C | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 13564490 | intergenic variant | A/G | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 187681148 | intergenic variant | C/T | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 50016753 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 |
|
0.800 | 1.000 | 3 | 2007 | 2018 | ||||||||
|
0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 |
|
0.700 | 1.000 | 3 | 2013 | 2018 |