Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
35 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 0.500 | 2 | 2019 | 2020 | |||
|
1 | 1.000 | 0.120 | 10 | 79611881 | missense variant | T/C | snv | 7.8E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.851 | 0.200 | 10 | 79557289 | missense variant | G/T | snv | 0.22 | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 10 | 79559428 | missense variant | G/A | snv | 9.9E-04 | 3.4E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.160 | 10 | 79614033 | stop gained | C/A;T | snv | 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.120 | 9 | 117714209 | missense variant | A/G | snv | 1.1E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
7 | 0.807 | 0.280 | 3 | 11340656 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 14 | 55369861 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 2 | 227533680 | missense variant | A/G | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.160 | 7 | 22728782 | synonymous variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |