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 | 1.000 | 0.080 | 3 | 114171850 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 16 | 10154207 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 12 | 117263909 | synonymous variant | A/G;T | snv | 0.69; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 16 | 29813850 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.925 | 0.080 | 5 | 79517086 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | X | 114762580 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 16 | 56336846 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 22 | 19971950 | missense variant | C/T | snv | 0.75 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 19 | 19526257 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.790 | 0.160 | 17 | 75522000 | missense variant | G/T | snv | 9.0E-04 | 9.0E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 5 | 1428399 | intron variant | G/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 9 | 32974556 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
14 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 0.700 | 0 |