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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.800 | 1.000 | 6 | 2010 | 2019 | |||
|
7 | 1.000 | 0.080 | 16 | 72074194 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 6 | 2010 | 2018 | ||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
5 | 1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 5 | 2009 | 2018 | ||||
|
4 | 1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 | 0.800 | 1.000 | 5 | 2010 | 2018 | ||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||
|
7 | 1.000 | 0.080 | 11 | 61811991 | intron variant | A/G | snv | 0.40 | 0.28 | 0.700 | 1.000 | 3 | 2015 | 2019 | |||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||
|
11 | 1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 | 0.700 | 1.000 | 3 | 2018 | 2019 | |||
|
5 | 1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 | 0.800 | 1.000 | 3 | 2009 | 2019 | |||
|
3 | 1.000 | 0.080 | 1 | 55058182 | missense variant | G/A;C | snv | 7.2E-03 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2009 | 2018 | |||||
|
11 | 1.000 | 0.040 | 17 | 69085137 | missense variant | A/G | snv | 9.3E-03 | 1.0E-02 | 0.700 | 1.000 | 3 | 2015 | 2018 | |||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
6 | 1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
6 | 1.000 | 0.040 | 1 | 62584148 | 3 prime UTR variant | G/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||
|
5 | 1.000 | 0.080 | 6 | 160122116 | missense variant | C/T | snv | 5.2E-02 | 4.9E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | |||
|
6 | 1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
5 | 1.000 | 0.080 | 19 | 44943964 | intron variant | G/A | snv | 1.3E-02 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
5 | 1.000 | 0.040 | 5 | 156971158 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
7 | 1.000 | 0.080 | 19 | 44738916 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
6 | 1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||
|
8 | 1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
6 | 1.000 | 0.080 | 19 | 44885917 | intron variant | T/A | snv | 0.11 | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2012 |