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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 11 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 11 | 2007 | 2018 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 8 | 2005 | 2019 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 4 | 2004 | 2020 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 3 | 2001 | 2019 | ||||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 2 | 2001 | 2018 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 21 | 2006 | 2020 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 14 | 2009 | 2020 | |||||||
|
0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 |
|
0.900 | 0.979 | 10 | 2006 | 2019 | |||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.900 | 1.000 | 9 | 2007 | 2020 | ||||||||
|
0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 |
|
0.900 | 0.963 | 9 | 2007 | 2017 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 8 | 2007 | 2019 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.900 | 0.914 | 8 | 2007 | 2020 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.944 | 8 | 2006 | 2020 | |||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.900 | 0.950 | 8 | 2009 | 2019 | ||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.900 | 0.958 | 8 | 2007 | 2019 | |||||||||
|
0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 |
|
0.900 | 1.000 | 7 | 2008 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 |
|
0.900 | 0.941 | 7 | 2007 | 2019 | ||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.967 | 7 | 2007 | 2017 | ||||||||
|
0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 |
|
0.900 | 0.852 | 6 | 2009 | 2020 | ||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.900 | 0.964 | 6 | 2007 | 2019 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.900 | 0.945 | 6 | 2007 | 2019 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.900 | 0.961 | 6 | 2007 | 2019 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.900 | 0.908 | 5 | 2006 | 2020 | |||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 5 | 2008 | 2019 |