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 | 0.040 | 10 | 67908257 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 8 | 16992890 | 3 prime UTR variant | G/A | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 16 | 55698539 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.040 | 17 | 45830379 | non coding transcript exon variant | C/G;T | snv | 4.4E-06; 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 3 | 52819385 | splice region variant | C/T | snv | 0.29 | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.040 | 5 | 143278591 | 3 prime UTR variant | C/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 17 | 59110368 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 3 | 52801338 | intron variant | C/T | snv | 0.47 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 9 | 4860267 | missense variant | C/T | snv | 2.6E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 1 | 7806023 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 1 | 155235002 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.925 | 0.080 | 15 | 51287401 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.120 | 7 | 87584585 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 13 | 33016046 | upstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 |