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 | 1.000 | 0.080 | 13 | 27968819 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 20 | 42472359 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37004421 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37004412 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47480854 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47403240 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37048525 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47480839 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116771932 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116759444 | missense variant | C/T | snv | 1.2E-04 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 68822082 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 17 | 8205021 | synonymous variant | G/A | snv | 0.66 | 0.64 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 8207446 | intron variant | C/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.080 | 20 | 56382507 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 1427996 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 41264249 | 3 prime UTR variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 19 | 17818178 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 13388251 | 3 prime UTR variant | A/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 89933370 | 3 prime UTR variant | C/T | snv | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |