| 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 | 0.120 | 5 | 143400541 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 5 | 143314010 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 6 | 18149120 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 7 | 87544938 | missense variant | G/C;T | snv | 4.0E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 5 | 143399830 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 7 | 99664017 | missense variant | C/T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.200 | 7 | 87553822 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 20 | 3213196 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.320 | 12 | 68154443 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.320 | 6 | 18138997 | missense variant | C/T | snv | 2.8E-02 | 2.6E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 11 | 118487353 | intron variant | T/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 11 | 118534089 | synonymous variant | G/A | snv | 0.30 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 22 | 41102623 | intron variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |