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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.080 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | |||||||
|
0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 46278228 | synonymous variant | C/A;T | snv | 4.0E-06; 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 245683732 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 246320481 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 83199436 | intergenic variant | A/G | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 100000723 | non coding transcript exon variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 238358337 | intron variant | G/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 1 | 100206504 | missense variant | T/A;C | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 243688645 | intron variant | G/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 244811284 | intergenic variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 60202030 | intergenic variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 211337552 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 74782438 | intergenic variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 4364085 | intergenic variant | G/A;T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 54584133 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |