| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 13 | 48465028 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 25847461 | missense variant | G/A | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 25769052 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1991 | 1991 | |||||||||
|
0.851 | 0.280 | 17 | 7674945 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 12 | 120215202 | missense variant | G/C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 7 | 116699588 | missense variant | G/A;T | snv | 3.7E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.827 | 0.240 | 7 | 2249951 | missense variant | G/A | snv | 2.2E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 17 | 7676005 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 19 | 43648948 | missense variant | A/G | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.807 | 0.160 | 18 | 63903295 | missense variant | C/G | snv | 0.29 | 0.28 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.160 | 15 | 74720646 | missense variant | G/A;T | snv | 1.6E-05; 3.1E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 11 | 103547430 | intergenic variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |