| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.020 | 1.000 | 2 | 2008 | 2019 | |||||||
|
0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 10 | 14009457 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 |
|
0.050 | 0.800 | 5 | 2013 | 2017 | ||||||||
|
0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.925 | 0.120 | 5 | 159405269 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 159407359 | intron variant | G/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 159409099 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 3 | 159992214 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 1 | 161530340 | intron variant | A/G | snv | 0.28 |
|
0.710 | 0.500 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 161538827 | intron variant | A/G | snv | 0.28 |
|
0.720 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 162479619 | intergenic variant | G/A | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 194360431 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 14 | 20428086 | 3 prime UTR variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.720 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
1.000 | 0.080 | 18 | 24913920 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 255562 | regulatory region variant | C/T | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 27354393 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 29097215 | upstream gene variant | C/A;T | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 29809899 | downstream gene variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 30010575 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 6 | 30490287 | missense variant | G/A;T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 30890477 | non coding transcript exon variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |