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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
10 | 76555466 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||||
|
6 | 108946847 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
17 | 71129465 | intron variant | G/T | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 238955452 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2012 | |||||||||||
|
16 | 78154006 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 116551938 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
4 | 105886950 | intron variant | G/A | snv | 4.5E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 4 | 144564586 | intron variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||
|
0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1 | 17265184 | intron variant | T/C | snv | 3.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 150249731 | 3 prime UTR variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 10 | 12235993 | intron variant | C/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
16 | 78154599 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 10078074 | regulatory region variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
4 | 144513536 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
4 | 105767747 | intron variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
12 | 114763631 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||||
|
22 | 17967521 | intron variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
7 | 156334552 | intergenic variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2017 | 2019 |