| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 46133768 | intron variant | G/C | snv | 0.36 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
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 | ||||||||
|
10 | 69333636 | intron variant | C/T | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
6 | 135114363 | intergenic variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
2 | 46127912 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
4 | 76492991 | intron variant | T/A;C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 46126027 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 169450583 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins |
|
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 | ||||||||||
|
7 | 100645788 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 47866484 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.120 | 15 | 76001630 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
15 | 76006403 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |