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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 3 | 181080939 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 5 | 81110747 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 7 | 24289527 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.040 | 16 | 80071969 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 12 | 72010598 | intron variant | C/A;T | snv | 0.81 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2010 | ||||
|
6 | 0.827 | 0.240 | 5 | 143400774 | missense variant | C/A;T | snv | 4.0E-06; 1.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 3 | 180949777 | intron variant | C/G;T | snv | 0.24 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.080 | 0.750 | 8 | 2004 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.070 | 0.714 | 7 | 2004 | 2016 | ||||
|
3 | 1.000 | 0.040 | 12 | 87334666 | intergenic variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 3 | 58120049 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 3 | 181063312 | intron variant | C/T | snv | 0.15 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 2 | 239090026 | missense variant | C/T | snv | 1.4E-03 | 1.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 8 | 133766099 | regulatory region variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 0.882 | 0.160 | 5 | 143400050 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 0.667 | 3 | 2012 | 2018 | |||
|
2 | 2 | 231433365 | downstream gene variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 3 | 42263460 | synonymous variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 13 | 25433839 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 |