| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 13 | 28018492 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.040 | 13 | 28034139 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 13 | 28034183 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 13 | 28034144 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.040 | 13 | 28049450 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 3 | 12590889 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 3 | 12590826 | missense variant | T/C;G | snv | 2.4E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 13 | 28018487 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.120 | 9 | 84002350 | missense variant | A/G;T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.040 | 11 | 119278541 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 4 | 83302560 | intron variant | C/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 4 | 83292466 | 3 prime UTR variant | A/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 9 | 27204929 | missense variant | G/A;C;T | snv | 1.6E-05; 2.7E-04; 8.4E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |