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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 14 | 102231805 | missense variant | C/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 13 | 110492105 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 5 | 134194449 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.807 | 0.120 | 5 | 150860025 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
7 | 0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.040 | 1 | 157695436 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |