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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
5 | 0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.280 | 1 | 156899255 | intron variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 1 | 173026503 | intron variant | T/-;TT | delins | 9.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.200 | 1 | 156882671 | downstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 1 | 156909788 | synonymous variant | C/T | snv | 0.14 | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 1 | 156912167 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 1 | 202307363 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
13 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 1 | 156913423 | missense variant | C/A;T | snv | 0.14; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.160 | 2 | 169154475 | stop gained | T/A;C | snv | 0.76 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.080 | 2 | 187466977 | missense variant | C/T | snv | 1.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.020 | 1.000 | 2 | 2005 | 2018 | |||
|
2 | 0.925 | 0.040 | 3 | 15633655 | intron variant | T/G | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.320 | 3 | 169763483 | downstream gene variant | C/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2016 | 2016 |