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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2008 | 2019 | |||||||
|
2 | 15 | 43953733 | intron variant | A/T | snv | 0.13 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 5 | 2017 | 2019 | ||||
|
4 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 5 | 2008 | 2019 | ||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 5 | 2007 | 2018 | ||||
|
5 | 4 | 87109109 | intron variant | G/T | snv | 0.56 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.700 | 1.000 | 5 | 2015 | 2019 | |||
|
2 | 1.000 | 0.040 | 11 | 116783719 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 5 | 2011 | 2019 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
4 | 0.925 | 0.120 | 7 | 73450539 | intron variant | A/G | snv | 9.2E-02 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||
|
8 | 0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||
|
10 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 5 | 2011 | 2019 | ||||
|
3 | 11 | 116794363 | upstream gene variant | C/T | snv | 0.17 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||||
|
6 | 10 | 63267850 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
7 | 8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
9 | 0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
4 | 1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||
|
5 | 1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||
|
7 | 1.000 | 0.040 | 8 | 19990569 | intergenic variant | G/A | snv | 0.15 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
6 | 11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 4 | 2018 | 2019 |