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 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
1.000 | 0.080 | 8 | 10775649 | intron variant | A/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 23961283 | intergenic variant | A/C | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 17 | 36032377 | intergenic variant | A/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 10 | 103927874 | intergenic variant | A/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 8 | 19951825 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||
|
0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 23245193 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 5 | 53048731 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 2 | 57069423 | intergenic variant | A/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 18 | 13825728 | splice region variant | A/C | snv | 0.17 | 0.19 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 2 | 168913876 | upstream gene variant | A/C | snv | 6.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 185793096 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 17 | 42552898 | 5 prime UTR variant | A/C | snv | 7.8E-03 | 8.2E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 5 | 50927276 | downstream gene variant | A/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 160195305 | intron variant | A/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 9 | 17147193 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 41088766 | intron variant | A/C | snv | 2.9E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 14 | 64294403 | 5 prime UTR variant | A/C | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 38493913 | non coding transcript exon variant | A/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 20657781 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 72387303 | intron variant | A/C | snv | 4.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | X | 135935372 | intergenic variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |