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 | 7 | 22193435 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2006 | |||||
|
1 | 1.000 | 0.080 | 10 | 99235705 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.851 | 0.080 | 19 | 11110759 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 16 | 56972000 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 3 | 53823890 | missense variant | T/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.120 | 11 | 114298316 | non coding transcript exon variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 21 | 43058215 | missense variant | G/A | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.200 | 5 | 7885846 | missense variant | A/G | snv | 0.18 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.200 | 1 | 11803417 | missense variant | G/A | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
7 | 0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2000 | ||||
|
11 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 1999 | 2012 | |||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.763 | 0.360 | 11 | 49164722 | missense variant | G/A | snv | 3.7E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.020 | 1.000 | 2 | 2003 | 2007 | ||||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.030 | 1.000 | 3 | 2018 | 2019 | |||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |