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 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||||
|
4 | 54528857 | intergenic variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
9 | 4852599 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
6 | 41953503 | intron variant | G/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | ||||||||||
|
14 | 65043160 | intron variant | C/T | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
6 | 135069698 | intron variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
7 | 100747483 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 135182647 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2010 | |||||||||||
|
2 | 46127912 | intron variant | A/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 139523292 | intron variant | G/A | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
6 | 139519556 | intron variant | A/C | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | ||||||||||
|
6 | 109292049 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2017 | |||||||||||
|
6 | 135131014 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
6 | 135090090 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
6 | 109311596 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 135114363 | intergenic variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 60382339 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
2 | 46133768 | intron variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | |||||||
|
1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2016 | 2019 |