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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 4 | 61608511 | intron variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 36686784 | 3 prime UTR variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 11 | 115266527 | intron variant | T/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 1 | 231762845 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 9783008 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 170822115 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 5 | 1447647 | upstream gene variant | G/C;T | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 11013652 | 5 prime UTR variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.040 | 9 | 118597008 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.080 | 16 | 55823661 | missense variant | C/A;G;T | snv | 4.8E-05; 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 3 | 24127696 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
1 | 1.000 | 0.040 | 7 | 114583668 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 9 | 116620855 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 7 | 114416000 | intron variant | G/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 106904783 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 106906212 | 3 prime UTR variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.200 | 9 | 133658547 | 3 prime UTR variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.200 | 6 | 77461407 | downstream gene variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.160 | 8 | 42704443 | 5 prime UTR variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.080 | 10 | 91588363 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |