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 | 0.040 | 4 | 129748953 | non coding transcript exon variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 231827745 | intron variant | C/T | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 30491805 | regulatory region variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 102279420 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 99943207 | intron variant | G/A | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 40810324 | intergenic variant | C/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 40767295 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 138252460 | 3 prime UTR variant | T/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 5 | 63965502 | intron variant | C/T | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 5 | 79799594 | missense variant | C/T | snv | 8.7E-02 | 8.2E-02 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 0.040 | 5 | 157890009 | regulatory region variant | T/A | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 8 | 4326648 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 88638889 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 175445201 | upstream gene variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 5 | 40835525 | upstream gene variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 1.000 | 28 | 2010 | 2019 | ||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 165935005 | intergenic variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 148621907 | intron variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 90724174 | non coding transcript exon variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 117261896 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 14 | 103847845 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 76104888 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 15 | 22896157 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 32058330 | missense variant | C/A;G;T | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |