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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 7 | 44515974 | intron variant | T/G | snv | 0.21 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 11 | 116765068 | intron variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | X | 15564843 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 9 | 104839260 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 8 | 19954741 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 0.925 | 0.120 | 10 | 93601831 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 1 | 21888152 | intron variant | C/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 22 | 46234737 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | X | 15584941 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | X | 15578920 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.040 | 9 | 104830901 | intron variant | A/C;T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.040 | 1 | 154443301 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 11 | 116836867 | intron variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 116839523 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 61835025 | intron variant | ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG | delins | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 | 0.010 | < 0.001 | 1 | 2015 | 2015 |