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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 19 | 44948767 | missense variant | A/C | snv | 6.9E-04 | 7.0E-04 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
2 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.120 | 1 | 55060623 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.060 | 0.667 | 6 | 1995 | 2000 | |||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.120 | 1 | 230101356 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 15 | 80139880 | downstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 17 | 37232521 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 17 | 37111115 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 11 | 116765068 | intron variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
17 | 0.701 | 0.560 | 6 | 52185988 | upstream gene variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 15 | 90537155 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 11 | 116836867 | intron variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 17 | 42367872 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 |