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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.900 | 1.000 | 22 | 2007 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 1.000 | 16 | 2008 | 2019 | |||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.900 | 1.000 | 15 | 2007 | 2019 | ||||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.100 | 1.000 | 13 | 1999 | 2014 | |||
|
2 | 0.925 | 0.080 | 5 | 96416081 | missense variant | T/C | snv | 3.9E-02 | 3.2E-02 | 0.100 | 1.000 | 13 | 2006 | 2019 | |||
|
2 | 1.000 | 0.080 | 18 | 60372245 | stop gained | G/T | snv | 6.8E-05 | 1.3E-04 | 0.700 | 1.000 | 11 | 1999 | 2011 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.100 | 1.000 | 10 | 2001 | 2018 | |||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.890 | 1.000 | 10 | 2007 | 2016 | |||||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.080 | 1.000 | 8 | 2001 | 2019 | ||||
|
10 | 0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 | 0.080 | 1.000 | 8 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2000 | 2014 | |||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.070 | 1.000 | 7 | 2008 | 2018 | |||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.840 | 1.000 | 6 | 2007 | 2012 | |||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.060 | 1.000 | 6 | 2009 | 2019 | |||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.060 | 1.000 | 6 | 2003 | 2015 | ||||
|
16 | 0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 | 0.060 | 1.000 | 6 | 2010 | 2017 | ||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.060 | 1.000 | 6 | 2007 | 2015 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.050 | 1.000 | 5 | 2007 | 2018 | |||
|
3 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2003 | 2015 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.050 | 1.000 | 5 | 2006 | 2015 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.050 | 1.000 | 5 | 2001 | 2016 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.050 | 1.000 | 5 | 2013 | 2020 | |||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.050 | 1.000 | 5 | 2011 | 2015 | ||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.050 | 1.000 | 5 | 2005 | 2019 |