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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.100 | 0.900 | 10 | 2005 | 2018 | |||
|
5 | 0.851 | 0.080 | 17 | 16940415 | missense variant | G/A;T | snv | 2.8E-05; 5.3E-03 | 0.050 | 0.800 | 5 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 46128901 | missense variant | A/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 203956670 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 17 | 16940442 | missense variant | C/T | snv | 1.8E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 5 | 157043390 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | X | 53122914 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | X | 30958830 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | X | 48035670 | intron variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 102211398 | intron variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 57337568 | intergenic variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 118148430 | intergenic variant | T/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 30538874 | intergenic variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 67982978 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 25725032 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 14 | 23629422 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 13940496 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | X | 40321436 | intergenic variant | C/T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 29304235 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 55528629 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 109043821 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 65238540 | intron variant | G/A | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |