Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 11 | 101504767 | missense variant | G/A | snv | 6.1E-05; 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.240 | 7 | 131506292 | missense variant | G/A | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 11 | 101471303 | synonymous variant | G/A;C | snv | 8.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 35851365 | synonymous variant | G/A | snv | 2.2E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 19 | 35843517 | synonymous variant | G/A;C | snv | 7.9E-02; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.160 | 22 | 36314138 | splice region variant | T/C | snv | 0.57 | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 |