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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.900 | 0.933 | 15 | 2005 | 2019 | |||
|
12 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.763 | 0.360 | 6 | 32945469 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
11 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
10 | 0.776 | 0.440 | 6 | 31973120 | non coding transcript exon variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.120 | 6 | 32626471 | upstream gene variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.320 | 6 | 29388554 | intron variant | A/G | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
6 | 0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
6 | 0.807 | 0.240 | 6 | 32373696 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.700 | 1.000 | 2 | 2008 | 2012 |