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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.900 | 0.953 | 149 | 2009 | 2020 | |||||||
|
0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 |
|
0.820 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.810 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 |
|
0.810 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.925 | 0.080 | 7 | 35515178 | upstream gene variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 71738582 | downstream gene variant | C/G | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 21 | 43348682 | intergenic variant | C/T | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.790 | 1.000 | 10 | 2011 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.760 | 1.000 | 7 | 2014 | 2019 | |||||||
|
0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 |
|
0.720 | 0.667 | 3 | 2011 | 2016 | ||||||||
|
0.925 | 0.040 | 22 | 43972242 | missense variant | A/G | snv | 0.21 | 0.18 |
|
0.710 | 1.000 | 2 | 2013 | 2018 | |||||||
|
1.000 | 0.040 | 22 | 43942254 | intron variant | T/C;G | snv | 0.40 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.882 | 0.040 | 8 | 9326721 | intron variant | G/A | snv | 0.87 |
|
0.710 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 22 | 44002644 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.925 | 0.040 | 22 | 43997195 | intron variant | C/T | snv | 0.47 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 68526282 | upstream gene variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 22 | 43964127 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 1635713 | regulatory region variant | C/G;T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 131344938 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 3147308 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 28691895 | intron variant | G/A | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 10 | 69828748 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 |