| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 16178825 | intergenic variant | A/G | snv | 0.47 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
14 | 103106478 | intron variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
3 | 171007753 | intron variant | G/A | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
22 | 17957192 | intron variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 155154472 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 88680551 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | |||||||
|
18 | 57655270 | missense variant | C/T | snv | 8.2E-02 | 8.0E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
2 | 191252512 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 111141654 | intron variant | A/G;T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
22 | 24603137 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 232648465 | intron variant | C/A;G | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
22 | 23953099 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 60591082 | intron variant | C/A | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||||
|
15 | 60585831 | intron variant | G/A | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
5 | 52897294 | intron variant | A/G | snv | 6.6E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||||
|
18 | 58416822 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
4 | 145873469 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
16 | 80463704 | intron variant | C/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||||
|
0.925 | 0.160 | 19 | 48702915 | intron variant | C/T | snv | 0.38 | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 31020414 | intergenic variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
10 | 77920676 | intron variant | A/G;T | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |