| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 14 | 100031649 | intron variant | T/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 100175622 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 100376562 | 5 prime UTR variant | G/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 100553850 | 3 prime UTR variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 13 | 100612442 | missense variant | T/C | snv | 1.4E-04; 8.1E-06 | 4.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 10 | 100635683 | intergenic variant | T/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
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 | ||||||||
|
0.851 | 0.120 | 2 | 100889540 | intron variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 | ||||||||
|
0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 |
|
0.040 | 1.000 | 4 | 2008 | 2012 | |||||||
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.050 | 0.600 | 5 | 2012 | 2018 | |||||||
|
0.851 | 0.120 | 2 | 100977729 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 2 | 100996106 | 3 prime UTR variant | C/T | snv | 0.24 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 101003969 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 11 | 101039260 | synonymous variant | T/C | snv | 0.24 | 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 11 | 101039579 | intron variant | A/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 101051471 | synonymous variant | G/A | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 14 | 101056219 | non coding transcript exon variant | T/A;C | snv | 4.0E-06; 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 101062537 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 |
|
0.060 | 0.667 | 6 | 2002 | 2020 | ||||||||
|
0.925 | 0.080 | 11 | 101105243 | intron variant | C/G | snv | 0.47 |
|
0.020 | 1.000 | 2 | 2013 | 2020 | ||||||||
|
0.925 | 0.080 | 11 | 101127471 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 11 | 101127937 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |