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 | |||||||
|
3 | 8 | 47960120 | missense variant | C/T | snv | 9.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 8 | 72005483 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 43575449 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 3 | 14167204 | missense variant | G/A | snv | 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 3 | 14146063 | frameshift variant | CCAGTATCCTGGCC/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 16 | 3597425 | missense variant | T/C | snv | 9.9E-04 | 4.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 21 | 17063088 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 16 | 2040233 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 3 | 14147981 | frameshift variant | GACGATGTATCCA/- | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1 | 3 | 14170483 | missense variant | T/G | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 14178554 | synonymous variant | G/A;C | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 19 | 45368650 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 14178562 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 5 | 15555377 | intron variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | |||
|
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 | |||
|
12 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | |||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |