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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1 | 16980180 | intron variant | C/A;G | snv | 0.700 | 1.000 | 6 | 2010 | 2019 | |||||||
|
5 | 1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2008 | 2019 | |||||
|
1 | 18 | 23155444 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||||
|
3 | 1.000 | 0.080 | 12 | 93584728 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2008 | 2019 | |||||
|
4 | 6 | 126530014 | intron variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
3 | 17 | 61419288 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
2 | 13 | 91372320 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
2 | 1 | 118312964 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
1 | 6 | 31138682 | missense variant | C/A;T | snv | 0.13; 4.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||||
|
5 | 12 | 65958046 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
3 | 2 | 37733470 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
5 | 20 | 6632185 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||||
|
8 | 20 | 6645571 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
3 | 6 | 19839184 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
4 | 18 | 23144364 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||||
|
3 | 15 | 83913372 | missense variant | G/A;T | snv | 1.6E-05; 0.61 | 0.700 | 1.000 | 3 | 2009 | 2019 | ||||||
|
2 | 5 | 135021015 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||||
|
7 | 0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||
|
3 | 1 | 218436360 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
1 | 17 | 61420691 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
4 | 17 | 61419916 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||||
|
4 | 4 | 72649596 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
3 | 5 | 89058858 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2019 |