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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 26061368 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
12 | 124799220 | intron variant | C/T | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
12 | 124853983 | intron variant | C/T | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
8 | 125483576 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
16 | 56969234 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
16 | 67943479 | 5 prime UTR variant | T/C | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
11 | 117014073 | intron variant | G/A | snv | 3.1E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||||
|
0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
11 | 54607190 | upstream gene variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
9 | 104884738 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1 | 156730859 | intron variant | T/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
16 | 56978467 | intron variant | T/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
16 | 56966973 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2018 |