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 | 16 | 11281429 | intron variant | G/T | snv | 0.21 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 20 | 57335452 | missense variant | C/T | snv | 5.7E-05 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||||
|
1 | 16 | 11276073 | intron variant | C/G;T | snv | 0.37 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 19 | 41018248 | 3 prime UTR variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 112663757 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 20368720 | intron variant | C/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 20 | 145515 | frameshift variant | CAAA/- | delins | 0.15 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 7 | 100198492 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 3 | 16598568 | missense variant | T/A;C | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 10 | 75232686 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 36573327 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 20 | 32791692 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 139390262 | intergenic variant | C/T | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 197756444 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 7 | 107772054 | missense variant | C/G | snv | 8.4E-04 | 8.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 16 | 11275998 | intron variant | G/C;T | snv | 4.1E-06; 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 45547503 | 5 prime UTR variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 11 | 36575763 | missense variant | A/G | snv | 0.19 | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 7 | 17305990 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 82544529 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 32774055 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 24545697 | 5 prime UTR variant | G/C | snv | 0.25 | 0.25 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 19 | 43416460 | missense variant | G/T | snv | 8.3E-02 | 8.3E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 197743089 | missense variant | G/A;C | snv | 4.1E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 7 | 73329400 | missense variant | C/A;T | snv | 2.4E-03 | 8.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 |