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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 7 | 100185286 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 100297067 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.080 | 12 | 101348402 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 8 | 101819970 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 102178081 | 3 prime UTR variant | C/G;T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.240 | 4 | 102607651 | splice region variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 4 | 102616617 | 3 prime UTR variant | G/A;T | snv | 5.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 1 | 10634850 | upstream gene variant | C/T | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 10 | 108737343 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 10903669 | intergenic variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 10 | 109063325 | intergenic variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 10 | 111075832 | upstream gene variant | T/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 111083327 | downstream gene variant | C/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 12 | 111398968 | intron variant | C/-;CC;CCC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 5 | 111473151 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
22 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.360 | 12 | 111766623 | intron variant | A/G | snv | 0.35 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.030 | 1.000 | 3 | 2010 | 2018 | |||
|
6 | 0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.900 | 1.000 | 11 | 2005 | 2019 | |||
|
3 | 1.000 | 0.080 | 12 | 112469070 | intron variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2018 | 2018 |