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 | X | 145059799 | downstream gene variant | T/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 6 | 27123646 | upstream gene variant | C/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 27281152 | downstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 5 | 4720472 | intron variant | G/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 0.040 | 6 | 28315086 | downstream gene variant | A/G | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 10 | 62156213 | regulatory region variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 1 | 163063552 | regulatory region variant | A/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.050 | 0.800 | 5 | 2011 | 2019 | |||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.900 | 20 | 2006 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 20 | 38329435 | intron variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 |