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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 14 | 54902537 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 7 | 1991 | 2014 | |||
|
2 | 1.000 | 0.200 | 2 | 72888457 | missense variant | A/G | snv | 5.6E-05 | 5.6E-05 | 0.700 | 1.000 | 5 | 2001 | 2013 | |||
|
2 | 1.000 | 0.080 | MT | 14597 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 0.120 | 14 | 54844138 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 2 | 72891502 | stop gained | A/T | snv | 8.0E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
30 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 20 | 3916955 | stop gained | C/A;T | snv | 4.0E-06; 1.2E-05; 3.6E-05 | 0.700 | 0 | |||||||
|
17 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.700 | 1.000 | 7 | 1998 | 2015 | |||
|
1 | 11 | 2171856 | 5 prime UTR variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2011 |