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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 1 | 147037378 | intron variant | T/C | snv | 0.76 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 11 | 90853732 | non coding transcript exon variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 1.000 | 2 | 233593475 | intergenic variant | T/C | snv | 7.0E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 11 | 88588556 | intron variant | C/T | snv | 4.7E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 16 | 74847922 | downstream gene variant | C/T | snv | 3.9E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 4 | 160585745 | intron variant | C/T | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | X | 133003128 | intergenic variant | T/C | snv | 3.2E-03 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 13 | 35603682 | intron variant | G/A | snv | 0.94 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 6 | 31463914 | non coding transcript exon variant | G/T | snv | 6.9E-02 | 0.10 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 6 | 31359287 | upstream gene variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.080 | 6 | 30057726 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 6 | 31175805 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 1.000 | 7 | 20007952 | intron variant | A/C | snv | 6.2E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 2 | 56136242 | intron variant | T/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 6 | 30880476 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 6 | 30002812 | intron variant | T/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 14 | 57888330 | intron variant | A/G | snv | 3.9E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 6 | 31057031 | intron variant | A/G | snv | 6.3E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 6 | 55283305 | downstream gene variant | G/A | snv | 3.2E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 6 | 30152113 | 3 prime UTR variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 1.000 | 6 | 148226666 | regulatory region variant | G/A | snv | 3.1E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 5 | 170487960 | intron variant | C/T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 21 | 43056923 | intron variant | T/C | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 1.000 | 2 | 233688675 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | 2 | 28788221 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |