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 | 12 | 119235698 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 33009477 | synonymous variant | C/A;T | snv | 4.3E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 15 | 100188458 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 9 | 6534080 | missense variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 28734673 | missense variant | C/A | snv | 0.800 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 17 | 7673790 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 17 | 7675130 | frameshift variant | -/CCATGGC | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 6 | 34068669 | intron variant | C/T | snv | 0.25 | 0.820 | 1.000 | 3 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.882 | 0.040 | 12 | 68841626 | 3 prime UTR variant | G/A | snv | 0.35 | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||
|
3 | 0.882 | 0.040 | 5 | 65151950 | splice region variant | C/G;T | snv | 0.48 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.040 | 17 | 50676062 | synonymous variant | C/T | snv | 8.7E-02 | 0.10 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
5 | 0.882 | 0.040 | 2 | 127283339 | intron variant | T/C | snv | 0.37 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.040 | 19 | 53886867 | intron variant | T/C | snv | 0.36 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
4 | 0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 | 0.720 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.040 | 12 | 68839592 | missense variant | A/G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 1999 | 2004 | ||||
|
5 | 0.882 | 0.040 | 20 | 6775501 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.040 | 17 | 50184491 | 3 prime UTR variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 12 | 68820362 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.040 | 10 | 88990884 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.882 | 0.040 | 7 | 106868379 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 14 | 102539710 | non coding transcript exon variant | G/C | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 |