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 | 13 | 2007 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 12 | 2005 | 2019 | |||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 9 | 2007 | 2018 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 6 | 2004 | 2020 | |||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 1 | 2001 | 2018 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 1 | 2001 | 2019 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 28 | 2006 | 2020 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.900 | 0.945 | 14 | 2007 | 2019 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 11 | 2009 | 2020 | |||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.900 | 0.953 | 11 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 10 | 2007 | 2019 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.900 | 0.914 | 8 | 2007 | 2020 | ||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.900 | 1.000 | 8 | 2008 | 2019 | ||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.900 | 0.964 | 8 | 2007 | 2019 | |||||||||
|
0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 |
|
0.900 | 0.979 | 7 | 2006 | 2019 | |||||||
|
0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 |
|
0.900 | 0.852 | 7 | 2009 | 2020 | ||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.967 | 7 | 2007 | 2017 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.900 | 0.939 | 6 | 2009 | 2020 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.944 | 6 | 2006 | 2020 | |||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 |
|
0.900 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.972 | 6 | 2004 | 2019 | |||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.900 | 0.889 | 6 | 2009 | 2020 | ||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 6 | 2009 | 2020 | |||||||||
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.900 | 1.000 | 6 | 1997 | 2019 |