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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 17 | 16948892 | synonymous variant | A/C | snv | 4.2E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
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 | 10 | 102400759 | stop gained | C/T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | |||
|
1 | 1.000 | 0.040 | 20 | 46128901 | missense variant | A/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
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 | |||
|
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 | ||||
|
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 | |||
|
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 | |||||
|
14 | 0.724 | 0.240 | 10 | 62679011 | downstream gene variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | X | 30958830 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 5 | 132475490 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 48035670 | intron variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | 10 | 79287626 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.724 | 0.240 | 16 | 28329624 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 |