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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 12 | 59685594 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 72054753 | non coding transcript exon variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 42358516 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 17 | 13140986 | regulatory region variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2011 | 2018 | |||||
|
5 | 0.827 | 0.200 | 7 | 87553822 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 85659544 | 3 prime UTR variant | G/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 26389153 | intron variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 1163962 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
20 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 55177671 | intron variant | G/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 22 | 30112286 | intron variant | C/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 116542000 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 29193478 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.776 | 0.280 | 13 | 28311271 | intron variant | C/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 13 | 51991990 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 13 | 51965390 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.240 | 16 | 13932175 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 6 | 143622177 | intron variant | T/C | snv | 0.60 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 139018499 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 68808017 | upstream gene variant | C/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 6 | 27721723 | intergenic variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 |