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 | 0.851 | 0.120 | 8 | 6465757 | intron variant | G/A | snv | 0.28 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.800 | 1.000 | 26 | 2014 | 2020 | |||
|
3 | 0.925 | 0.160 | 16 | 53826140 | missense variant | G/A | snv | 2.1E-03 | 6.4E-04 | 0.710 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 195143585 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 3 | 62886233 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 1 | 212668592 | upstream gene variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 1 | 92833637 | frameshift variant | AACA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 22 | 17209534 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
25 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.909 | 11 | 2009 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.050 | 1.000 | 5 | 2007 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
6 | 0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
4 | 0.882 | 0.120 | 13 | 48037798 | missense variant | G/A | snv | 9.1E-04 | 2.4E-04 | 0.030 | 1.000 | 3 | 2017 | 2019 | |||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.030 | 1.000 | 3 | 2012 | 2019 | |||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||
|
9 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
1 | 1.000 | 0.040 | 16 | 48208468 | missense variant | G/A | snv | 5.1E-02 | 4.8E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
7 | 0.807 | 0.320 | 6 | 18138997 | missense variant | C/T | snv | 2.8E-02 | 2.6E-02 | 0.020 | 1.000 | 2 | 2006 | 2017 |