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 | 12 | 748335 | upstream gene variant | A/C;T | snv | 0.040 | 1.000 | 4 | 2005 | 2018 | |||||||
|
1 | 4 | 47661743 | missense variant | T/G | snv | 4.6E-03 | 2.0E-02 | 0.030 | 1.000 | 3 | 2007 | 2012 | |||||
|
2 | 1.000 | 12 | 63146696 | 3 prime UTR variant | C/A | snv | 0.12 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||||
|
1 | 14 | 92932714 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||||
|
1 | 2 | 168179226 | intron variant | A/G | snv | 0.27 | 0.030 | 0.667 | 3 | 2011 | 2016 | ||||||
|
2 | 2 | 168184876 | intron variant | T/G | snv | 0.37 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||||
|
1 | 4 | 47661782 | missense variant | G/A | snv | 4.6E-03 | 2.0E-02 | 0.030 | 1.000 | 3 | 2007 | 2012 | |||||
|
3 | 3 | 27507409 | regulatory region variant | A/G | snv | 0.30 | 0.710 | 1.000 | 3 | 2015 | 2018 | ||||||
|
2 | 14 | 92932705 | missense variant | G/A | snv | 3.1E-02 | 2.3E-02 | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
1 | 12 | 89696964 | intron variant | C/T | snv | 0.15 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||||
|
4 | 12 | 89595822 | intron variant | G/A | snv | 0.60 | 0.710 | 1.000 | 2 | 2013 | 2018 | ||||||
|
5 | 19 | 11416089 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
4 | 4 | 80236549 | regulatory region variant | T/C | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 1 | 192810186 | missense variant | G/A | snv | 1.2E-04 | 7.0E-05 | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1 | 12 | 89623959 | intron variant | G/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||||
|
4 | 1 | 230713613 | intron variant | T/C | snv | 0.57 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 112673921 | intron variant | A/C;G | snv | 0.810 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1 | 17 | 63480868 | intron variant | A/G | snv | 0.45 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||
|
5 | 10 | 18131043 | intergenic variant | G/C;T | snv | 0.810 | 1.000 | 2 | 2011 | 2013 | |||||||
|
4 | 7 | 27119517 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
4 | 12 | 50144032 | missense variant | A/G;T | snv | 0.69 | 0.71 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
1 | 4 | 110409934 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 33204354 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 142915715 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |