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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 1 | 75740094 | missense variant | G/A | snv | 4.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
8 | 0.827 | 0.200 | 1 | 53210776 | missense variant | G/A | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
4 | 0.925 | 0.080 | 1 | 53213557 | missense variant | A/G | snv | 0.16 | 0.15 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
15 | 0.752 | 0.320 | 1 | 53197092 | missense variant | C/A | snv | 1.7E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
5 | 0.851 | 0.200 | 1 | 53213509 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
2 | 0.925 | 0.040 | 3 | 53673804 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 4 | 108027727 | missense variant | T/C | snv | 6.8E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 44145270 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
4 | 0.882 | 0.120 | 7 | 107901762 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 9 | 94609998 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.040 | 10 | 87053380 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2006 | 2014 | |||||
|
15 | 0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
35 | 0.701 | 0.560 | 10 | 76891709 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.040 | 0.500 | 4 | 2005 | 2019 | ||||
|
5 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 |