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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.120 | 7 | 87544351 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | X | 23781758 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.776 | 0.160 | 17 | 30223796 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.882 | 0.080 | 12 | 108883967 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 12 | 47751585 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.080 | 12 | 108884971 | intron variant | T/A;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 3 | 8770725 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 12 | 27402904 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.120 | 7 | 8678450 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 5 | 7448683 | intron variant | C/T | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 12 | 79699537 | intron variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 1 | 208073865 | intron variant | A/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 5 | 32394809 | intron variant | T/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 6261042 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 5 | 37817242 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 5 | 84175168 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 73114768 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.160 | 4 | 89747463 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 12 | 108889827 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |