| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 102573750 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
15 | 64891602 | intron variant | A/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 76751114 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
17 | 19900934 | upstream gene variant | T/C | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 4744743 | intron variant | T/C | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
14 | 100693079 | intergenic variant | T/G | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 12226148 | intergenic variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 4 | 87265357 | intron variant | G/A | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
13 | 95245953 | intron variant | A/G | snv | 0.91 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 56815721 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
22 | 19996754 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 33573942 | intron variant | A/G | snv | 0.51 | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||
|
12 | 56629500 | intron variant | C/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 202856 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||||
|
9 | 134060541 | intron variant | G/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
18 | 23141009 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||||
|
6 | 25548060 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 11 | 119229196 | intron variant | G/C | snv | 6.0E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
9 | 21986848 | intron variant | T/A | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||||
|
16 | 23754453 | non coding transcript exon variant | G/A | snv | 7.7E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.280 | 17 | 4933086 | missense variant | C/T | snv | 9.8E-02 | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | |||||||
|
12 | 54342686 | intron variant | A/C;G | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
7 | 106718770 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2011 | 2019 |