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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 21 | 45509554 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 20 | 25339294 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 51380577 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | 11 | 8100575 | frameshift variant | AGAG/-;AG | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 21 | 45477409 | splice acceptor variant | A/G | snv | 8.2E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 208145915 | missense variant | C/A;G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
3 | 0.925 | 0.040 | 15 | 79171618 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 1 | 16125272 | synonymous variant | G/A | snv | 0.28 | 0.24 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.120 | 5 | 139374887 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.080 | 16 | 67165833 | missense variant | G/A | snv | 3.3E-04 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.040 | 15 | 79168687 | intron variant | G/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del | 0.060 | 1.000 | 6 | 2005 | 2019 | |||||
|
6 | 0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 | 0.060 | 1.000 | 6 | 2005 | 2019 | ||||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.040 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2005 | 2018 | |||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.030 | 1.000 | 3 | 2008 | 2015 |