| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 7 | 2009 | 2018 | ||||||||
|
2 | 46126027 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 2 | 2009 | 2016 | ||||||||||
|
10 | 69333636 | intron variant | C/T | snv | 0.12 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
6 | 26107235 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||||||
|
0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
20 | 52701812 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.700 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
17 | 61371584 | intron variant | A/G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 69340132 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 46133768 | intron variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 87128698 | intron variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 7 | 151708919 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 213793544 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 75820650 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |