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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.160 | X | 8533018 | missense variant | T/C | snv | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.160 | 22 | 40409505 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.200 | 14 | 104780148 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.280 | 8 | 38419696 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.280 | 8 | 38418270 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.160 | 8 | 38419678 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.030 | 0.667 | 3 | 2003 | 2008 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 0.500 | 2 | 2007 | 2008 | |||||||
|
1.000 | 0.160 | 2 | 201185809 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.160 | 7 | 102028117 | missense variant | C/G | snv | 2.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 1 | 15504663 | synonymous variant | G/A | snv | 4.4E-05 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |