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 | 4 | 1000626 | missense variant | G/A;C | snv | 0.16; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 4 | 1002377 | missense variant | G/A;C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 1005657 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
5 | 100650833 | downstream gene variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 1013199 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 1014598 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 20 | 10658895 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
20 | 10659340 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 10660229 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 106904084 | upstream gene variant | A/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 106909000 | upstream gene variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 109933349 | downstream gene variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 109937598 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 110485642 | intron variant | A/T | snv | 9.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 112886172 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 116117981 | intron variant | A/C;T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 118281022 | intergenic variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 118577128 | intergenic variant | A/G | snv | 7.1E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 118750031 | intergenic variant | C/T | snv | 7.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 118772253 | intron variant | T/C | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 118852830 | intergenic variant | C/T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 118874676 | intergenic variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
8 | 118934417 | intron variant | C/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 118964303 | intergenic variant | C/A | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2013 |