| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2003 | 2018 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2005 | 2011 | ||||
|
2 | 0.925 | 0.120 | 4 | 2898474 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2018 | |||
|
4 | 0.851 | 0.080 | 8 | 105419192 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 8 | 105801714 | missense variant | G/A;T | snv | 3.4E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 8 | 105788864 | missense variant | A/G | snv | 4.5E-04 | 4.7E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 14 | 64457259 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.240 | 22 | 30610886 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 19 | 18878511 | 3 prime UTR variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 10 | 130548836 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 14 | 81871321 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 22 | 38436107 | intron variant | G/A | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 3 | 30605668 | upstream gene variant | A/G;T | snv | 0.64 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 11 | 63145382 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 20 | 6601515 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 6 | 53495838 | downstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 0.925 | 0.080 | 2 | 52478914 | upstream gene variant | T/G | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 59663795 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 1 | 218342968 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 6 | 43777657 | missense variant | A/G | snv | 7.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 4 | 110618313 | missense variant | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |