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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
6 | 0.882 | 0.120 | 14 | 24632383 | missense variant | G/C | snv | 0.21 | 0.26 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 7 | 140800368 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 6 | 131958700 | intron variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.120 | 14 | 24631076 | missense variant | A/G | snv | 0.24 | 0.25 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.080 | 9 | 117700861 | upstream gene variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 16 | 16007895 | missense variant | G/C | snv | 2.0E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
19 | 0.716 | 0.400 | 4 | 153685974 | intron variant | T/A | snv | 0.45 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
6 | 0.925 | 0.080 | 4 | 148827842 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
21 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2005 | 2009 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.040 | 0.500 | 4 | 2003 | 2013 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 0.667 | 3 | 2005 | 2010 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.040 | 0.750 | 4 | 2005 | 2017 | |||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2017 |