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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.752 | 0.360 | 21 | 33268483 | missense variant | A/G | snv | 0.33 | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.752 | 0.520 | 9 | 6254208 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
11 | 0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.763 | 0.280 | X | 49246763 | missense variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
12 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 |