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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 17 | 7676271 | frameshift variant | -/A | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 21 | 17063088 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
10 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 16 | 2040233 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.020 | 1.000 | 2 | 2004 | 2012 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 8 | 47960120 | missense variant | C/T | snv | 9.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
10 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 3 | 14146063 | frameshift variant | CCAGTATCCTGGCC/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
4 | 0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 3 | 14167204 | missense variant | G/A | snv | 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
34 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 3 | 14178554 | synonymous variant | G/A;C | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 3 | 14178562 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |