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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
1 | 1.000 | 0.040 | 2 | 3827777 | intron variant | T/C | snv | 0.79 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 107250441 | 3 prime UTR variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 116344602 | missense variant | C/A | snv | 0.68 | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.040 | 2 | 120360455 | intergenic variant | A/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 2 | 120360548 | intergenic variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 63497260 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 19 | 18436405 | synonymous variant | C/T | snv | 6.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 19 | 18436831 | synonymous variant | C/T | snv | 8.9E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 1 | 169541110 | missense variant | T/C;G | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 4 | 109911150 | upstream gene variant | T/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
12 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
7 | 0.807 | 0.240 | 19 | 7166365 | synonymous variant | C/G;T | snv | 4.0E-06; 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.752 | 0.280 | 4 | 24799693 | missense variant | G/A;T | snv | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
15 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |