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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.800 | 0.941 | 1 | 1995 | 2019 | ||||||||
|
0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 |
|
0.900 | 1.000 | 1 | 1996 | 2015 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 2 | 1997 | 2018 | |||||||
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.900 | 1.000 | 2 | 1997 | 2019 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 3 | 1998 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 202086810 | intergenic variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 18 | 56267556 | regulatory region variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 18 | 58242398 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 203199346 | intergenic variant | A/T | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 18 | 56261410 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 1 | 202082885 | TF binding site variant | T/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 203190998 | upstream gene variant | G/T | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 203196253 | intergenic variant | G/A | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
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 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.780 | 1.000 | 2 | 2001 | 2019 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.880 | 1.000 | 1 | 2001 | 2019 | |||||||
|
0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 |
|
0.790 | 1.000 | 1 | 2002 | 2014 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 4 | 2004 | 2020 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.900 | 1.000 | 1 | 2004 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
0.850 | 0.857 | 1 | 2004 | 2018 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 8 | 2005 | 2019 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.900 | 0.936 | 4 | 2005 | 2019 | |||||||
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
0.890 | 0.923 | 4 | 2005 | 2019 |