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 | ||||||||
|
4 | 105767747 | intron variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
4 | 105697983 | intron variant | G/T | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 5 | 148466252 | intron variant | A/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
10 | 76555466 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2015 | |||||||||
|
0.851 | 0.080 | 15 | 78559273 | regulatory region variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
2 | 238955452 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2012 | |||||||||||
|
16 | 78154841 | intron variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 169582431 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
4 | 105127203 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.790 | 0.360 | 6 | 31504943 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
6 | 29387425 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 238440721 | intron variant | G/A | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 28354519 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 10 | 12235993 | intron variant | C/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
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 | ||||||||||
|
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 | ||||||||||
|
9 | 110538555 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |