| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del |
|
0.020 | 0.500 | 2 | 2014 | 2014 | |||||||||
|
0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2013 | 2014 | |||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
0.827 | 0.120 | X | 32699141 | missense variant | A/C;G | snv | 5.5E-06; 8.3E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | X | 44593652 | intergenic variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | X | 123900661 | missense variant | A/C | snv | 0.33 | 0.39 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.800 | 30 | 2000 | 2019 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.900 | 0.895 | 19 | 2003 | 2017 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.040 | 1.000 | 4 | 2012 | 2015 | |||||||||
|
0.882 | 0.160 | 22 | 28695858 | missense variant | G/A | snv | 4.8E-04 | 1.1E-04 |
|
0.040 | 1.000 | 4 | 2008 | 2015 | |||||||
|
0.925 | 0.080 | 22 | 40480230 | intron variant | T/C | snv | 0.12 |
|
0.710 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.925 | 0.080 | 22 | 29225488 | intron variant | C/T | snv | 0.96 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.925 | 0.080 | 22 | 40382227 | intron variant | A/C | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 22 | 20111021 | 3 prime UTR variant | G/A | snv | 6.1E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 22 | 23894794 | missense variant | C/G;T | snv | 6.1E-06 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 41501983 | intron variant | C/T | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 22 | 28695764 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 22 | 40143521 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 22 | 44080184 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 |