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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.100 | 0.818 | 22 | 2005 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
7 | 0.827 | 0.080 | 1 | 231818355 | missense variant | C/T | snv | 0.11 | 0.14 | 0.060 | 1.000 | 6 | 2008 | 2019 | |||
|
4 | 0.882 | 0.080 | 1 | 231694549 | missense variant | G/A | snv | 0.30 | 0.26 | 0.050 | 0.600 | 5 | 2006 | 2018 | |||
|
3 | 0.882 | 0.160 | 1 | 231761122 | intron variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.120 | 1 | 232037092 | 3 prime UTR variant | G/A | snv | 3.1E-02 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 231770903 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2004 | 2007 | |||||
|
3 | 0.882 | 0.160 | 1 | 232013187 | intron variant | T/C | snv | 0.37 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 231827745 | intron variant | C/T | snv | 0.23 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 231723435 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 231818424 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 231793189 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 231784475 | intron variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 231800404 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 231801734 | intron variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 231758862 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 231744594 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.080 | 1 | 231777927 | intron variant | G/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 231626861 | 5 prime UTR variant | G/A;T | snv | 5.3E-02; 1.8E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 231767264 | synonymous variant | C/T | snv | 7.6E-02 | 4.8E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 1 | 231958860 | missense variant | A/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 232008917 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 231632793 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |