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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||||
|
7 | 6 | 41957421 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
3 | 6 | 2050557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 14 | 64236875 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
4 | 16 | 260381 | intron variant | G/A;C | snv | 1.1E-02 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||||
|
1 | 12 | 2414606 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
4 | 18 | 48934533 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | |||||||
|
12 | 5 | 1104823 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 2 | 111410354 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
4 | 12 | 88424702 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 6 | 109292049 | intron variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2017 | |||||||
|
4 | 1.000 | 0.040 | 22 | 45968281 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
1 | 8 | 119736926 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 19 | 12876791 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 6 | 135167358 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 19 | 33273956 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 41936044 | missense variant | A/C;G;T | snv | 0.54; 1.6E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 0.925 | 0.080 | 9 | 4860643 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 9 | 4853751 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 10 | 27095178 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 12 | 10428441 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |