| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 14 | 100855451 | non coding transcript exon variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.120 | 12 | 102475722 | synonymous variant | C/T | snv | 1.2E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | 11 | 102599525 | intron variant | A/G | snv | 9.4E-02 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 1 | 10303606 | missense variant | G/T | snv | 1.8E-02 | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.851 | 0.160 | 8 | 104244917 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 10448065 | intron variant | C/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 6 | 104699909 | intergenic variant | G/A | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 104732910 | intron variant | C/T | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 6 | 104736765 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 6 | 104818243 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 6 | 104852695 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 104871250 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 11 | 104949666 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.080 | 6 | 104958399 | intron variant | A/C | snv | 0.10 |
|
0.810 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.851 | 0.080 | 6 | 105080213 | 3 prime UTR variant | T/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.807 | 0.120 | 1 | 11022301 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.240 | 12 | 112450359 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.240 | 1 | 113537449 | intron variant | C/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 114716848 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 |