| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 34811812 | missense variant | A/C;G;T | snv | 4.0E-06; 2.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
1 | 62606594 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.080 | 19 | 44875803 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
15 | 58448935 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 3 | 2009 | 2013 | |||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
8 | 143969375 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.925 | 0.120 | 19 | 48703160 | synonymous variant | A/G | snv | 0.38 | 0.45 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1 | 55050835 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 25442446 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
10 | 17218291 | intron variant | A/G | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
16 | 56972466 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 109278262 | downstream gene variant | A/G | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 19185066 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |