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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 0.090 | 1.000 | 9 | 2004 | 2019 | |||||
|
2 | 0.925 | 0.040 | 7 | 27095695 | missense variant | C/A;G;T | snv | 0.76 | 0.040 | 0.750 | 4 | 2002 | 2009 | ||||
|
6 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 0.700 | 1.000 | 4 | 2012 | 2016 | |||||
|
6 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
3 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
11 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
13 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2009 | 2019 | |||||
|
5 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2009 | 2019 | |||||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2019 | |||||
|
2 | 0.925 | 0.040 | X | 5893158 | missense variant | G/A | snv | 1.1E-05 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 184902089 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 205745778 | synonymous variant | T/A;G | snv | 4.0E-06; 0.19 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.040 | 22 | 40349918 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 5 | 140902846 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 114537037 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 1 | 197435519 | frameshift variant | AG/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 181509807 | splice region variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 |