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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 0.040 | 1.000 | 4 | 2013 | 2020 | ||||
|
3 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 0.030 | 0.333 | 3 | 2015 | 2017 | ||||
|
9 | 0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2000 | 2012 | |||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.020 | 1.000 | 2 | 2012 | 2020 | ||||
|
3 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | X | 48792376 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.240 | 10 | 63341311 | intron variant | G/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 10 | 99861014 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 54442613 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 55089065 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 3 | 54387228 | intron variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.120 | 19 | 12885001 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 5226665 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |