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 | 0.200 | 10 | 101219450 | intergenic variant | T/A;C | snv | 0.100 | 1.000 | 10 | 2013 | 2019 | |||||
|
5 | 0.827 | 0.280 | 20 | 21904055 | intergenic variant | G/A | snv | 0.61 | 0.030 | 1.000 | 3 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.200 | 10 | 101204847 | intergenic variant | G/A | snv | 0.45 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
4 | 0.882 | 0.200 | 17 | 71240857 | intergenic variant | G/T | snv | 7.5E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.160 | 5 | 3607950 | intergenic variant | G/A;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.240 | 20 | 21981695 | regulatory region variant | A/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.160 | 17 | 56772968 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 153330567 | intergenic variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
18 | 0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
3 | 1.000 | 0.160 | 6 | 142349725 | intron variant | C/A | snv | 0.37 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.160 | 6 | 142383933 | intron variant | G/A | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.160 | 6 | 142429255 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 6 | 142331279 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.240 | X | 67722899 | missense variant | G/A;T | snv | 0.820 | 0.969 | 32 | 1992 | 2019 | |||||
|
2 | 0.925 | 0.200 | X | 67717600 | missense variant | G/A | snv | 0.800 | 1.000 | 29 | 1992 | 2016 | |||||
|
3 | 0.882 | 0.200 | X | 67722898 | missense variant | C/T | snv | 0.810 | 1.000 | 27 | 1992 | 2009 | |||||
|
3 | 0.882 | 0.200 | X | 67723746 | missense variant | G/A;C | snv | 5.5E-06 | 0.800 | 1.000 | 26 | 1992 | 2014 | ||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.800 | 1.000 | 23 | 1992 | 2017 | ||||
|
5 | 0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv | 0.810 | 1.000 | 21 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 67643378 | missense variant | G/A;T | snv | 0.810 | 1.000 | 21 | 1992 | 2005 | |||||
|
2 | 0.925 | 0.160 | X | 67717535 | missense variant | G/A;T | snv | 0.810 | 1.000 | 21 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.200 | X | 67711569 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67722943 | missense variant | C/T | snv | 0.810 | 0.952 | 21 | 1992 | 2004 | |||||
|
4 | 0.851 | 0.200 | X | 67722944 | missense variant | G/A;T | snv | 0.810 | 0.952 | 21 | 1992 | 2004 |