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 | 7 | 29316787 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 40232341 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 4699738 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 20 | 4684616 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 20 | 4664427 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 20 | 4704015 | downstream gene variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 4699797 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 20 | 4699821 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 4699816 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1999 | 2019 | |||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.860 | 1.000 | 7 | 2008 | 2015 | |||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 0.944 | 18 | 1995 | 2019 | ||||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.720 | 1.000 | 2 | 2011 | 2015 | |||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.730 | 1.000 | 3 | 2010 | 2013 | |||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.740 | 1.000 | 11 | 1993 | 2018 | |||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.030 | 1.000 | 3 | 2000 | 2015 | |||
|
9 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 0.800 | 1.000 | 14 | 2002 | 2019 | |||||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.160 | 20 | 4699780 | missense variant | A/G | snv | 0.720 | 1.000 | 2 | 2000 | 2010 |