| 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 | 0.120 | 6 | 28271191 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 17 | 39875604 | intron variant | T/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 30037977 | intron variant | C/A | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 30035104 | non coding transcript exon variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 7 | 64266267 | missense variant | T/C | snv | 8.2E-02 | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 4 | 82429 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 5 | 72460843 | missense variant | C/A;G;T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 19 | 34684303 | missense variant | A/G;T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 51581583 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 7 | 99521178 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 28247863 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 20 | 63718234 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 6 | 29681279 | upstream gene variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 31380766 | non coding transcript exon variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 22 | 21630805 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.040 | 0.500 | 4 | 2012 | 2018 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 0.667 | 3 | 2006 | 2018 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.020 | < 0.001 | 2 | 2012 | 2018 | |||||||
|
0.925 | 0.160 | 7 | 121326736 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 169570527 | intron variant | T/C | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 10 | 48889774 | intron variant | G/A | snv | 0.54 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 48911009 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |