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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.120 | 1 | 11788011 | missense variant | G/C | snv | 0.10 | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1 | 43338592 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.120 | 1 | 206783747 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 1 | 97740403 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 23798701 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1 | 22086463 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
10 | 0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 3 | 129062206 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 3 | 119780660 | 5 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 |