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 | 1.000 | 6 | 152241136 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 16 | 65949614 | intergenic variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 6 | 151880688 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
2 | 1.000 | 4 | 69735020 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 11 | 71459957 | non coding transcript exon variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 4 | 52165349 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 1 | 172153461 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 5 | 177023836 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.807 | 0.200 | 14 | 64306674 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.080 | 7 | 1086257 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | X | 70926548 | synonymous variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 16 | 50114082 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 19962807 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 3 | 5306910 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 5 | 177027080 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |