| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.800 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||||||
|
0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
16 | 56969234 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
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 | ||||||||||
|
1.000 | 0.040 | 16 | 56983750 | 3 prime UTR variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
16 | 56983850 | downstream gene variant | C/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
16 | 56970977 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||||
|
16 | 56966372 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
16 | 56983090 | intron variant | T/G | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
16 | 56977273 | non coding transcript exon variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
16 | 56972466 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |