| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.807 | 0.320 | 6 | 32205216 | intron variant | C/T | snv | 0.11 |
|
0.810 | 0.667 | 1 | 2009 | 2014 | ||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.851 | 0.040 | 11 | 125591814 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 102434022 | intron variant | C/T | snv | 0.64 |
|
0.810 | 0.667 | 1 | 2013 | 2016 | ||||||||
|
0.851 | 0.040 | 8 | 88748082 | intron variant | A/G | snv | 0.28 |
|
0.810 | 0.800 | 1 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 210362681 | intron variant | C/T | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.760 | 1.000 | 6 | 2008 | 2017 | |||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.750 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 |
|
0.740 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 44834046 | intron variant | A/G | snv | 5.1E-02 |
|
0.730 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 |
|
0.720 | 0.900 | 2 | 2014 | 2019 | ||||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.720 | 0.750 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 15 | 90883330 | 3 prime UTR variant | G/A;C | snv |
|
0.720 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 147611315 | intron variant | T/C | snv | 0.71 |
|
0.720 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.827 | 0.160 | 2 | 184668853 | intron variant | T/C | snv | 0.53 |
|
0.720 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 44842267 | intron variant | A/G | snv | 0.52 |
|
0.720 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 2293080 | intron variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
0.925 | 0.080 | 8 | 143573145 | upstream gene variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 10 | 102852578 | intron variant | T/A | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2014 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 46539130 | intron variant | C/T | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2012 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 28247668 | intron variant | C/T | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 16 | 29928556 | non coding transcript exon variant | A/G | snv | 0.50 |
|
0.710 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 22 | 20242258 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 |
|
0.710 | 1.000 | 1 | 2014 | 2019 |