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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.909 | 11 | 2000 | 2019 | |||||||
|
0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 |
|
0.030 | 1.000 | 3 | 2014 | 2020 | ||||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | |||||||
|
0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.160 | 1 | 45332409 | missense variant | A/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 171670879 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 1 | 171381070 | intergenic variant | T/G | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 171778066 | upstream gene variant | T/C | snv | 7.9E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 171482283 | upstream gene variant | A/G | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 1 | 54527266 | downstream gene variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 169611580 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.160 | 1 | 45334484 | missense variant | C/A;T | snv | 4.8E-02 | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 1 | 20772323 | intron variant | G/A | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |