| 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 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | |||||||
|
X | 154665129 | intergenic variant | G/A | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 7 | 2010 | 2018 | ||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 3 | 2009 | 2017 | ||||||||||
|
22 | 36362502 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
22 | 27785411 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
22 | 37078039 | intron variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
22 | 39517277 | 3 prime UTR variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 30033675 | intron variant | G/C | snv | 9.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 38962032 | intron variant | A/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 37042611 | regulatory region variant | G/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 50552604 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 50526433 | missense variant | G/A | snv | 0.61 | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
22 | 45174224 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 30109130 | intron variant | T/- | delins | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 37091770 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 36028975 | upstream gene variant | G/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 32498965 | downstream gene variant | GTTTT/-;GTTTTGTTTT | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 50273345 | upstream gene variant | C/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 22 | 21627765 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
22 | 43934151 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 32477140 | intron variant | G/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 37097138 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |