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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2004 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.070 | 1.000 | 7 | 2012 | 2020 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.050 | 0.800 | 5 | 2010 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2004 | 2018 | |||||||||
|
0.851 | 0.240 | 1 | 20604981 | missense variant | G/A | snv | 2.6E-04 | 1.5E-04 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 207495069 | upstream gene variant | G/C | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 20618562 | synonymous variant | C/T | snv | 0.31 | 0.34 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 1 | 112913924 | missense variant | A/T | snv | 0.59 | 0.66 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.200 | 1 | 230710637 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 155187520 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 26420316 | intron variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 241523216 | upstream gene variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 1 | 11788011 | missense variant | G/C | snv | 0.10 | 0.10 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 1 | 3682346 | 5 prime UTR variant | C/T | snv | 0.20 | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 1 | 3682336 | 5 prime UTR variant | G/A;T | snv | 0.20; 3.3E-04 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |