| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 8 | 42756217 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 11 | 46385307 | synonymous variant | G/A | snv | 1.0E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 13 | 46846177 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 53253835 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 69696523 | 3 prime UTR variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 18 | 77250689 | synonymous variant | T/C | snv | 0.57 | 0.57 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.925 | 0.080 | 15 | 78566058 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
1 | 1.000 | 0.080 | 5 | 79496521 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.120 | 6 | 88163211 | intron variant | T/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
2 | 1.000 | 0.080 | 3 | 96134788 | intergenic variant | A/G | snv | 8.6E-03 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 |