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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.080 | 11 | 101785666 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 103052694 | missense variant | A/C | snv | 0.85 | 0.89 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 13 | 103052700 | synonymous variant | G/A | snv | 1.9E-02 | 2.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
11 | 0.763 | 0.240 | 4 | 105207603 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.160 | 12 | 10986253 | missense variant | C/T | snv | 0.40 | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.776 | 0.080 | 13 | 110423534 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 9 | 110909123 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 11 | 111286111 | 3 prime UTR variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.776 | 0.080 | 10 | 112528860 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 5 | 112761654 | intron variant | A/G | snv | 9.6E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 5 | 112801324 | missense variant | C/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 2005 | 2005 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2005 | 2005 | |||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.050 | 1.000 | 5 | 2000 | 2009 | |||
|
10 | 0.776 | 0.080 | 10 | 112962862 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 3 | 113185041 | downstream gene variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 3 | 113280713 | intron variant | G/A | snv | 2.7E-02 | 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.080 | 12 | 114662909 | upstream gene variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 |