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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 21971116 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2006 | 2012 | |||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.160 | 12 | 25225717 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 12 | 6349184 | missense variant | A/G | snv | 1.9E-02 | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
19 | 16908042 | intron variant | C/T | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 19 | 6718117 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
12 | 32740421 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.160 | 6 | 34335092 | intron variant | A/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 3038127 | missense variant | C/G;T | snv | 3.2E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.040 | 1.000 | 4 | 2006 | 2014 | |||||||
|
0.882 | 0.240 | 12 | 109591301 | missense variant | C/G;T | snv | 1.4E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |