| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 20 | 47466905 | intergenic variant | G/A | snv | 5.0E-02 |
|
0.720 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 111040905 | upstream gene variant | C/T | snv | 0.18 |
|
0.020 | 0.500 | 2 | 2008 | 2009 | ||||||||
|
1.000 | 0.040 | 13 | 113040195 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 21 | 26932893 | missense variant | C/T | snv | 0.12 | 0.12 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 181487841 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 245587630 | intron variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 118939534 | intron variant | G/A | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 47995860 | intron variant | A/C | snv | 0.74 | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 19 | 7677916 | intron variant | T/C;G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 18 | 23390742 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 37906899 | 3 prime UTR variant | G/A | snv | 0.70 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 15 | 51255741 | 5 prime UTR variant | C/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 10 | 7562392 | 3 prime UTR variant | T/C;G | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 44720220 | intergenic variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 30752733 | intergenic variant | G/C;T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 78038275 | intron variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 96090522 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 76795528 | intron variant | T/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 20 | 47491550 | downstream gene variant | A/G | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 75066030 | intron variant | A/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 161191145 | missense variant | C/T | snv | 3.1E-04 | 4.7E-04 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 116131040 | intron variant | T/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |