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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.900 | 0.923 | 13 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.080 | 8 | 32553698 | intron variant | C/T | snv | 0.10 | 0.850 | 0.833 | 6 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 43117161 | intron variant | C/T | snv | 0.77 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.760 | 1.000 | 33 | 1994 | 2017 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.730 | 1.000 | 3 | 1998 | 2009 | |||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.720 | 1.000 | 2 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.160 | 10 | 43127485 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2009 | 2014 | |||||
|
2 | 0.925 | 0.080 | 10 | 43063942 | intergenic variant | C/T | snv | 1.2E-02 | 0.710 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 10 | 43111408 | missense variant | G/A | snv | 2.3E-03 | 6.6E-04 | 0.710 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 8 | 32543983 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 116183122 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 7 | 84692873 | intergenic variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 43238858 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 13 | 86134644 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 10 | 37546726 | downstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 10 | 43114918 | intron variant | G/A;T | snv | 0.83 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 43109502 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 43239327 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 27130639 | stop gained | G/A;C | snv | 4.0E-06; 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 43088808 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 43087702 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 10 | 43188152 | downstream gene variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 43150406 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |