| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 20 | 63743036 | 3 prime UTR variant | C/A;T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.710 | 1.000 | 3 | 2009 | 2018 | |||||||||
|
1.000 | 0.040 | 10 | 87864514 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 10 | 129716598 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 27269953 | intron variant | C/T | snv | 7.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 16 | 50094961 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 11 | 118709156 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
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 | ||||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
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 | 12 | 132799954 | intron variant | T/C | snv | 5.3E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 118618067 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 11 | 118685689 | downstream gene variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 11 | 82685972 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 121696590 | 5 prime UTR variant | G/A;C;T | snv | 0.12 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.925 | 0.120 | 8 | 41510767 | 3 prime UTR variant | T/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 18 | 2011 | 2020 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.080 | 1.000 | 8 | 2009 | 2019 |