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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.964 | 28 | 2007 | 2020 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2019 | 2020 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 22 | 15376497 | intergenic variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 159740727 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.120 | 11 | 58624189 | synonymous variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
1 | 7 | 145416641 | intergenic variant | G/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 47320137 | missense variant | A/G | snv | 4.0E-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 | |||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | ||||
|
2 | 6 | 151875817 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 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 | |||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |