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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 121498597 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 10 | 121496701 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.080 | 10 | 121488064 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2017 | ||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.040 | 1.000 | 4 | 1999 | 2014 | |||||
|
9 | 0.807 | 0.120 | 10 | 121517460 | missense variant | C/A;T | snv | 2.4E-05 | 0.030 | 1.000 | 3 | 2000 | 2004 | ||||
|
7 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
6 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 10 | 121485399 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 10 | 121515287 | missense variant | G/A | snv | 3.5E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
13 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
1 | 1.000 | 0.080 | 10 | 121503884 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 121503799 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |