| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 7 | 100093577 | mature miRNA variant | C/T | snv | 6.4E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 11 | 101128241 | missense variant | G/C;T | snv | 4.7E-06; 4.7E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 11 | 101128246 | synonymous variant | G/A | snv | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.030 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 10 | 102435445 | upstream gene variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 102527789 | synonymous variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 4 | 102600911 | missense variant | A/G | snv | 9.6E-05 | 3.9E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 102612593 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.020 | 0.500 | 2 | 2009 | 2018 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 106238552 | intron variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 108046402 | 3 prime UTR variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 108046545 | 3 prime UTR variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 108071988 | intron variant | G/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.776 | 0.240 | 1 | 11106656 | 3 prime UTR variant | T/C | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 111215824 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 11 | 112087944 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |