| 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 | 0.080 | 10 | 100362846 | 3 prime UTR variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.050 | 0.800 | 5 | 2012 | 2018 | |||||||
|
0.925 | 0.080 | 14 | 101033612 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.280 | 15 | 101277671 | upstream gene variant | C/A;T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 19 | 10166651 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 9 | 101900303 | intergenic variant | A/G | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 102133102 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 3 | 10213318 | missense variant | C/G;T | snv | 5.5E-02; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 14 | 102229572 | missense variant | C/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 14 | 102342318 | 3 prime UTR variant | G/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 12 | 102394036 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 5 | 102458457 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.080 | 4 | 102466262 | downstream gene variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2018 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 4 | 102555009 | intron variant | T/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 102587667 | intron variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |