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 | 6 | 31498140 | 5 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||
|
5 | 0.925 | 0.120 | 6 | 31015906 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 1.000 | 6 | 31386727 | upstream gene variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
5 | 1.000 | 6 | 31387042 | upstream gene variant | C/T | snv | 0.32 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
5 | 0.925 | 0.120 | 6 | 30817496 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 0.925 | 0.120 | 6 | 30819816 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 1.000 | 6 | 31521102 | upstream gene variant | C/T | snv | 5.5E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||
|
4 | 1.000 | 6 | 31120157 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||
|
9 | 0.851 | 0.200 | 6 | 31304484 | intron variant | C/T | snv | 0.81 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
6 | 0.882 | 0.200 | 6 | 32298729 | intron variant | G/A | snv | 6.8E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 1.000 | 6 | 31158000 | splice region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 1.000 | 6 | 31202737 | non coding transcript exon variant | A/G | snv | 0.14 | 0.12 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 1.000 | 6 | 31543573 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 1.000 | 6 | 30855853 | regulatory region variant | T/C | snv | 0.16 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 1.000 | 6 | 31607499 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||
|
7 | 0.925 | 0.120 | 6 | 31301396 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 0.925 | 0.120 | 6 | 31605150 | intergenic variant | T/C | snv | 5.4E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 1.000 | 6 | 31015486 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
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 | |||||
|
4 | 1.000 | 6 | 31116511 | synonymous variant | T/C | snv | 0.57 | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 6 | 31115887 | 3 prime UTR variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 |