| 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 | 1 | 243688645 | intron variant | G/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 15 | 64943580 | missense variant | A/G | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 4 | 121696590 | 5 prime UTR variant | G/A;C;T | snv | 0.12 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 4 | 121673909 | intron variant | T/C | snv | 8.3E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121674585 | intron variant | T/C | snv | 9.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121696476 | intron variant | C/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121670320 | intron variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121669758 | intron variant | G/A | snv | 0.23 | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.724 | 0.320 | 18 | 63319604 | 5 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 27657901 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 19 | 2011 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 18 | 2011 | 2020 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 208186862 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.900 | 1.000 | 12 | 2009 | 2020 | ||||||||
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.760 | 1.000 | 9 | 2013 | 2019 | ||||||||
|
0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 |
|
0.720 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.810 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 129653397 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 129651264 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 129627294 | non coding transcript exon variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |