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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 89791478 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.120 | 5 | 150070569 | missense variant | T/C | snv | 9.9E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 10 | 102231987 | missense variant | C/G;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 75998585 | intergenic variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 100622306 | intron variant | G/A | snv | 0.88 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 23084258 | intergenic variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.200 | 5 | 7897078 | missense variant | C/T | snv | 0.16 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 1 | 20650507 | missense variant | A/C | snv | 0.29 | 0.28 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
7 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.120 | 17 | 45990034 | missense variant | T/C | snv | 0.15 | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 17 | 45990316 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 17 | 45838990 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 0.500 | 6 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 102983270 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.160 | 12 | 50992283 | synonymous variant | A/G | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 233485841 | missense variant | G/A;T | snv | 0.32; 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 4 | 17511987 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.100 | 1.000 | 28 | 2005 | 2019 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.100 | 0.980 | 153 | 1997 | 2020 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.100 | 0.957 | 70 | 1998 | 2019 |