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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 11 | 114298316 | non coding transcript exon variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 1 | 11857283 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.776 | 0.240 | 1 | 11859214 | upstream gene variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.882 | 0.160 | 15 | 90877710 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 3 | 123885940 | upstream gene variant | T/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.360 | 22 | 41880738 | missense variant | G/C | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.925 | 0.040 | 6 | 31354782 | non coding transcript exon variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
5 | 0.882 | 0.080 | 9 | 21998036 | intron variant | G/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
20 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 |