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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.080 | 7 | 87409385 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.742 | 0.240 | 2 | 54200842 | intron variant | A/T | snv | 0.56 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
5 | 0.827 | 0.120 | 2 | 54247527 | intron variant | T/A;G | snv | 0.19 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
9 | 0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.200 | 2 | 54251980 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
6 | 0.807 | 0.160 | 2 | 54253232 | 3 prime UTR variant | C/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.120 | 4 | 73435667 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.120 | 4 | 73451012 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 1 | 17582733 | intron variant | G/A | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 17520426 | intergenic variant | C/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
|
22 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 8 | 13094897 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.882 | 0.080 | 8 | 13092766 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.080 | 8 | 13090431 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
5 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.160 | 19 | 45421104 | intron variant | G/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 |