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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 6 | 88163211 | intron variant | T/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 1 | 233608833 | intergenic variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 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 | |||
|
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 | 2 | 25161964 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.925 | 0.080 | 10 | 124737579 | intron variant | G/C | snv | 0.18 | 0.810 | 1.000 | 2 | 2014 | 2018 | ||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
4 | 0.851 | 0.160 | 5 | 143407136 | non coding transcript exon variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
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 | |||
|
7 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
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 | |||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 8 | 42732292 | missense variant | C/T | snv | 3.6E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 12 | 124517777 | intron variant | C/T | snv | 1.6E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 |