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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 33080909 | missense variant | G/A;T | snv | 0.31; 1.4E-02 | 0.710 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33070989 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.080 | 6 | 33077781 | intron variant | G/A | snv | 0.32 | 0.710 | 0.667 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33111389 | upstream gene variant | C/T | snv | 4.8E-02 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33091175 | downstream gene variant | G/A | snv | 5.9E-02 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 33073257 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | 21 | 33246788 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33080917 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 22 | 21566528 | intron variant | G/C | snv | 0.18 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33085905 | missense variant | G/A;C | snv | 0.32; 4.1E-06 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33068100 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | 6 | 33069898 | intron variant | C/A | snv | 0.23 | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 7 | 32780825 | intergenic variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33069222 | missense variant | T/C | snv | 0.24 | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 100690714 | intron variant | C/T | snv | 2.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 173201479 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 21568167 | non coding transcript exon variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 22 | 39018377 | missense variant | G/C;T | snv | 5.2E-05; 5.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33069647 | missense variant | T/A;C;G | snv | 0.24 | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 33068658 | missense variant | T/G | snv | 0.24 | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 9 | 125241510 | upstream gene variant | CC/-;C;CCC;CCCC | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 125235313 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 8 | 74029040 | missense variant | C/G;T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 95044286 | synonymous variant | C/T | snv | 1.2E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 15 | 90302268 | intron variant | G/T | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 |