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 | 1.000 | 0.040 | 14 | 54839739 | downstream gene variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 3 | 88765985 | intergenic variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.120 | 3 | 88809891 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 5 | 10169711 | downstream gene variant | T/C | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 46429969 | upstream gene variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 118274971 | regulatory region variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 0.925 | 0.040 | 13 | 37601702 | upstream gene variant | T/C | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 13 | 46899085 | upstream gene variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 186683820 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 13 | 33013514 | upstream gene variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 46420268 | TF binding site variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.120 | 7 | 156182007 | downstream gene variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 13 | 95015426 | upstream gene variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | X | 13459192 | intergenic variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1 | 156885826 | downstream gene variant | C/T | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 10 | 99798989 | intron variant | G/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 95027878 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 13 | 95283335 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 149166179 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
17 | 0.763 | 0.240 | 11 | 66560624 | stop gained | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 |