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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.040 | 3 | 16598169 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 19 | 49016648 | missense variant | A/G | snv | 6.5E-02 | 7.6E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
4 | 0.851 | 0.200 | 19 | 49016626 | missense variant | A/G | snv | 4.9E-02 | 7.5E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.040 | 13 | 42906069 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
3 | 0.925 | 0.040 | 15 | 50424871 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 1 | 247896410 | missense variant | T/C;G | snv | 0.58; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 9 | 25677217 | 3 prime UTR variant | T/C | snv | 0.44 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 21 | 44261270 | splice region variant | T/C | snv | 0.70 | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | X | 104013293 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 6 | 29521271 | intergenic variant | G/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 9 | 78405502 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 72683993 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 7 | 135230056 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 7 | 100180604 | missense variant | G/T | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 7 | 5992006 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 9 | 894044 | missense variant | A/G | snv | 2.7E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.040 | 6 | 116278733 | missense variant | G/T | snv | 3.6E-03 | 2.7E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 2.5E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 116278872 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |