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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 3 | 95969999 | intergenic variant | A/G;T | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 6 | 87085541 | 3 prime UTR variant | A/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 12 | 20368720 | intron variant | C/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 19 | 10156335 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 11 | 30233753 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 73329400 | missense variant | C/A;T | snv | 2.4E-03 | 8.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
1 | 7 | 107772054 | missense variant | C/G | snv | 8.4E-04 | 8.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.120 | 5 | 132369766 | 5 prime UTR variant | C/G | snv | 0.59 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.030 | 0.333 | 3 | 2011 | 2015 | ||||
|
1 | 16 | 11276073 | intron variant | C/G;T | snv | 0.37 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
7 | 0.827 | 0.240 | 5 | 422840 | missense variant | C/G;T | snv | 0.38; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2019 | ||||
|
1 | 10 | 75232686 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 20 | 45548848 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.060 | 0.500 | 6 | 2011 | 2017 | |||
|
3 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
1 | 20 | 57335452 | missense variant | C/T | snv | 5.7E-05 | 0.030 | 1.000 | 3 | 2011 | 2017 |