| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 25821542 | intron variant | C/T | snv | 6.1E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
15 | 65759007 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
6 | 135131014 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
6 | 139514552 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
22 | 37078039 | intron variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
5 | 119269328 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 72996771 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 109305762 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 129591389 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 4757649 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 64467594 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 14 | 74980176 | regulatory region variant | C/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
14 | 100134466 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 151515219 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 110852366 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 144425390 | intron variant | C/G | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 47594213 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 97627834 | upstream gene variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 32581163 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
13 | 47931358 | non coding transcript exon variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 17999765 | 3 prime UTR variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 35281568 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |