| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 |
|
0.810 | 1.000 | 1 | 2008 | 2011 | ||||||||
|
1.000 | 0.040 | 11 | 76590331 | upstream gene variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
0.890 | 0.923 | 4 | 2005 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.830 | 1.000 | 4 | 2007 | 2017 | |||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.850 | 1.000 | 2 | 2006 | 2020 | ||||||||
|
0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 16 | 50634515 | 3 prime UTR variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50637810 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 67113712 | 3 prime UTR variant | C/A;T | snv | 8.0E-06; 6.4E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
1.000 | 0.040 | 19 | 48705608 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 3 | 49416401 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50636271 | 3 prime UTR variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 16 | 50733736 | 3 prime UTR variant | A/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50645404 | 3 prime UTR variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.160 | 16 | 50732216 | splice donor variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50681274 | 5 prime UTR variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.040 | 3 | 49664550 | synonymous variant | G/A | snv | 0.26 | 0.27 |
|
0.810 | 1.000 | 3 | 2007 | 2010 | |||||||
|
0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 |
|
0.850 | 1.000 | 2 | 2005 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.34 | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |