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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.030 | 0.667 | 3 | 2014 | 2018 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.030 | 1.000 | 3 | 2015 | 2019 | |||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
1 | 1.000 | 0.080 | 17 | 43768035 | 3 prime UTR variant | C/T | snv | 0.66 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
2 | 1.000 | 0.080 | 13 | 42566423 | intron variant | G/A | snv | 0.18 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
5 | 0.851 | 0.240 | 7 | 93426441 | missense variant | A/G | snv | 0.39 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | < 0.001 | 2 | 2003 | 2007 | |||
|
9 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 | 0.020 | 0.500 | 2 | 2006 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 23875153 | synonymous variant | G/A | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23874958 | synonymous variant | C/T | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
4 | 0.882 | 0.120 | 18 | 62414860 | upstream gene variant | A/G | snv | 0.67 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
12 | 0.752 | 0.400 | 8 | 118952831 | upstream gene variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.200 | 8 | 118952785 | upstream gene variant | C/T | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
12 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 23787639 | 3 prime UTR variant | G/A | snv | 0.64 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 22384980 | intergenic variant | G/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
3 | 1.000 | 0.080 | 7 | 96508362 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 199831723 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 |