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 | 0.120 | 19 | 57328138 | missense variant | C/G | snv | 5.8E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 7 | 93314448 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 107646236 | intron variant | A/G | snv | 0.19 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
11 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 118657756 | 3 prime UTR variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.240 | 17 | 7559652 | missense variant | A/G | snv | 0.70 | 0.64 | 0.830 | 1.000 | 4 | 2011 | 2017 | |||
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
4 | 0.882 | 0.160 | 4 | 38805206 | 5 prime UTR variant | G/A | snv | 0.14 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 187020633 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 17 | 7587859 | 3 prime UTR variant | G/T | snv | 0.71 | 0.67 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 2 | 44286102 | start lost | T/C | snv | 2.0E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 18 | 63805221 | 3 prime UTR variant | T/C | snv | 0.61 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 18 | 63805309 | 3 prime UTR variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 15 | 38554477 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.200 | 6 | 32843852 | missense variant | G/T | snv | 0.14 | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 1 | 161170696 | missense variant | G/A;T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 |