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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.882 | 34 | 1999 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.857 | 21 | 2003 | 2019 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.100 | 0.833 | 12 | 2003 | 2014 | |||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.080 | 1.000 | 8 | 2005 | 2017 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.200 | 1 | 11796244 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 3707661 | missense variant | C/G | snv | 4.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.827 | 0.240 | 3 | 53823776 | missense variant | A/C;T | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 3 | 9943972 | synonymous variant | C/T | snv | 0.27 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 3 | 9943989 | missense variant | T/C;G | snv | 2.6E-02; 6.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 3 | 9934538 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 3 | 9943440 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 3 | 9943773 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 4 | 109994859 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.100 | 0.895 | 19 | 2000 | 2017 | |||
|
6 | 0.807 | 0.160 | 5 | 173235023 | missense variant | C/G | snv | 1.1E-03 | 7.1E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
17 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.160 | 5 | 173235071 | missense variant | G/A | snv | 6.7E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 |