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 | 8 | 118753955 | intron variant | C/T | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 16 | 84866923 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 9 | 33798530 | missense variant | A/G | snv | 1.2E-03 | 1.5E-03 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 10 | 116638373 | splice acceptor variant | A/G;T | snv | 0.49 | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 8 | 11847803 | synonymous variant | G/A | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 122284641 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 16 | 84850577 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 6 | 90271934 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 15445655 | frameshift variant | CATCG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 48632014 | missense variant | C/G;T | snv | 4.0E-06; 9.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 7 | 117614713 | missense variant | G/A;T | snv | 4.0E-06; 1.3E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 7 | 142751884 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 10 | 30230903 | regulatory region variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | X | 106897095 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 8 | 19955870 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 5 | 147828020 | splice donor variant | A/G;T | snv | 3.1E-04 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
4 | 0.925 | 0.040 | 14 | 94378506 | missense variant | T/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.080 | 8 | 143213935 | missense variant | G/A;C | snv | 6.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.080 | X | 106956972 | missense variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 8 | 11853351 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |