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 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 8 | 19458576 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 22551320 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 1.000 | 7 | 18464885 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 10 | 44368720 | downstream gene variant | C/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 19 | 10793799 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | |||
|
1 | 6 | 31559979 | downstream gene variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
7 | 0.807 | 0.240 | 8 | 35265058 | intron variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 12 | 2008 | 2020 | ||||
|
9 | 0.776 | 0.080 | 1 | 11992660 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 3 | 97627774 | intron variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 1 | 161307376 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.807 | 0.240 | 6 | 36026129 | upstream gene variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.080 | 8 | 74360194 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 2 | 166284599 | missense variant | G/C;T | snv | 4.0E-06; 2.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.120 | 9 | 32867483 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 8 | 55198762 | intron variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 1.000 | 20 | 945754 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 8 | 19405853 | missense variant | A/C | snv | 1.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 7 | 76302828 | missense variant | C/G;T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |