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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 56594888 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 17 | 56594834 | missense variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.080 | 17 | 56594327 | missense variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
22 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |