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 | 0.925 | 0.080 | 2 | 10046292 | missense variant | A/G;T | snv | 9.3E-02 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
4 | 0.882 | 0.080 | 2 | 10047996 | missense variant | C/G;T | snv | 4.0E-06; 3.3E-03 | 0.020 | 0.500 | 2 | 2005 | 2006 | ||||
|
4 | 0.882 | 0.080 | 2 | 10048376 | missense variant | G/T | snv | 1.3E-04 | 8.4E-05 | 0.020 | 0.500 | 2 | 2005 | 2006 | |||
|
2 | 1.000 | 0.040 | 2 | 10048589 | frameshift variant | -/A | delins | 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 15 | 101262360 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 4 | 1017278 | intron variant | T/A;G | snv | 9.5E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2015 | |||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.240 | 12 | 102462924 | non coding transcript exon variant | C/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
5 | 0.925 | 0.120 | 11 | 104160870 | intron variant | C/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.080 | 1 | 107765105 | missense variant | T/A | snv | 0.58 | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.120 | 11 | 108227678 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.827 | 0.200 | 11 | 108412434 | intron variant | C/A | snv | 0.49 | 0.020 | 0.500 | 2 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
3 | 0.925 | 0.120 | 12 | 109209475 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 13 | 109770184 | intron variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 16 | 10977321 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.851 | 0.120 | 4 | 110810780 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 |