| 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 | 0.080 | X | 146868046 | intergenic variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | X | 92628018 | downstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | X | 133986233 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.280 | X | 49252667 | intron variant | T/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 71103387 | 3 prime UTR variant | C/T | snv | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | X | 102963359 | intergenic variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 67711555 | missense variant | C/G;T | snv | 5.5E-06; 5.5E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | X | 7843706 | missense variant | T/A;C;G | snv | 4.9E-05; 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | X | 55014829 | missense variant | C/T | snv | 6.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 0.946 | 37 | 2011 | 2019 | |||||||
|
0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 |
|
0.760 | 1.000 | 6 | 2013 | 2019 | ||||||||
|
0.882 | 0.120 | 22 | 23771357 | intron variant | C/T | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 22 | 39142209 | intron variant | A/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 22 | 39084658 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 22 | 38982116 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 22 | 21619030 | intron variant | C/A;T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |