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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 11 | 112164016 | 5 prime UTR variant | A/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.200 | 4 | 122615808 | synonymous variant | G/A | snv | 0.74 | 0.77 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.120 | 22 | 28719414 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 22 | 28734721 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 8 | 132869781 | missense variant | G/A | snv | 7.6E-04 | 7.0E-04 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 | 0.710 | 1.000 | 3 | 2010 | 2015 | ||||
|
6 | 0.882 | 0.080 | 9 | 97784318 | intron variant | C/T | snv | 0.71 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||
|
6 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.240 | 3 | 169800667 | missense variant | T/C;G | snv | 0.37; 1.8E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.080 | 22 | 40409261 | missense variant | T/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 10 | 43114492 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.160 | 7 | 55198851 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.790 | 0.200 | 20 | 54125940 | regulatory region variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.827 | 0.080 | 9 | 97787746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.807 | 0.120 | 11 | 48125070 | missense variant | G/A | snv | 0.18 | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
8 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.200 | 2 | 112786000 | upstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.200 | 15 | 67163292 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |