| 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 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.807 | 0.120 | 1 | 3730017 | missense variant | C/G;T | snv | 8.2E-06; 8.2E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2001 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 26429683 | 3 prime UTR variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 1 | 143544453 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 1 | 143653074 | upstream gene variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 1 | 15495395 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 1 | 7738307 | missense variant | C/T | snv | 2.1E-03 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 1 | 26022729 | missense variant | C/G;T | snv | 8.4E-04; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 1 | 143550435 | intron variant | T/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 143569860 | intron variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 143545399 | intron variant | C/T | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 1 | 183138564 | non coding transcript exon variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
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 | |||||||||
|
0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.200 | 1 | 26428582 | 3 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.400 | 1 | 26427451 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.160 | 1 | 26410652 | upstream gene variant | G/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 1 | 143665797 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |