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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 |
|
0.900 | 0.980 | 4 | 2005 | 2019 | |||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.900 | 3 | 2005 | 2018 | |||||||
|
0.925 | 0.160 | 1 | 196731921 | intron variant | G/A;C;T | snv |
|
0.810 | 1.000 | 3 | 2005 | 2013 | |||||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.830 | 1.000 | 3 | 2005 | 2016 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.800 | 2 | 2005 | 2016 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.900 | 0.996 | 2 | 2005 | 2020 | |||||||
|
0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 |
|
0.850 | 1.000 | 2 | 2005 | 2018 | |||||||
|
0.925 | 0.080 | 9 | 114783386 | downstream gene variant | C/T | snv | 0.34 |
|
0.820 | 1.000 | 2 | 2005 | 2019 | ||||||||
|
0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 |
|
0.760 | 1.000 | 2 | 2005 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 9 | 114907019 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 9 | 114856029 | intron variant | A/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 9 | 114917522 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 1 | 2005 | 2007 | |||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.900 | 0.933 | 1 | 2005 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 114901931 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.980 | 1 | 2005 | 2019 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.857 | 1 | 2005 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 114901892 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 9 | 114915956 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 9 | 114907419 | intron variant | A/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 9 | 114801407 | intron variant | T/G | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 |
|
0.720 | 1.000 | 1 | 2005 | 2016 |