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 | 9 | 22066213 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 5 | 81411157 | non coding transcript exon variant | T/A | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.040 | 14 | 35404564 | synonymous variant | G/A | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.040 | 4 | 23795829 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.040 | 16 | 24566199 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.040 | 6 | 41163980 | upstream gene variant | A/G | snv | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 22 | 38081923 | synonymous variant | G/A | snv | 0.47 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 10 | 45440776 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.040 | 16 | 73898 | intron variant | A/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.040 | 4 | 110632961 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.040 | 15 | 43883735 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 13 | 28003551 | 3 prime UTR variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 6 | 31165582 | missense variant | T/A | snv | 5.0E-04 | 8.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 7 | 55080369 | intron variant | AA/-;A;AAA;AAAA;AAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 20 | 63689615 | synonymous variant | T/C | snv | 0.74 | 0.81 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 11 | 114160077 | non coding transcript exon variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 13 | 107823165 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |