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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 13 | 78836439 | intron variant | T/C | snv | 2.3E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 84018044 | intergenic variant | A/G | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 132386819 | intergenic variant | A/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 15395740 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 15396282 | intron variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 165601943 | intron variant | T/C | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 92917836 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 13 | 108163877 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2010 | 2012 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.020 | 0.500 | 2 | 2010 | 2017 | ||||
|
7 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 150229830 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 15 | 58741975 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
7 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 4 | 46369816 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 |