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 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 5 | 58988559 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 118700852 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 134225547 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 74005787 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 50463289 | missense variant | C/T | snv | 2.3E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 12 | 66356099 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 31577208 | missense variant | G/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 58989799 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 74006370 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 6 | 159762678 | non coding transcript exon variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 11 | 102796745 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 5 | 59038945 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 95474454 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 8 | 118932927 | splice region variant | G/A | snv | 0.11 | 9.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 85418938 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 11 | 64911072 | missense variant | G/A | snv | 5.7E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 7 | 139610185 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 189009011 | missense variant | A/G | snv | 4.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 5124466 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 159404417 | downstream gene variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 210689850 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |