| 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 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.280 | X | 49252667 | intron variant | T/C | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.160 | X | 47566722 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.200 | X | 154534463 | missense variant | G/A;C | snv | 2.8E-04; 5.5E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | X | 154536168 | missense variant | G/C | snv | 1.7E-04 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 1.000 | 9 | 2006 | 2013 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.070 | 1.000 | 7 | 2007 | 2019 | |||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
22 | 28689135 | missense variant | C/A;G | snv | 4.3E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2007 | ||||||||||
|
0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
22 | 20092080 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.807 | 0.200 | 22 | 42126611 | missense variant | C/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 22 | 37236730 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |