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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 1 | 156135274 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 0.500 | 2 | 2009 | 2012 | ||||
|
4 | 0.882 | 0.120 | 16 | 50710912 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 16 | 50711058 | stop gained | G/A;T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 3 | 93884748 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 0.882 | 0.200 | 22 | 38128276 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.120 | 8 | 103885482 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 17 | 66226046 | missense variant | C/T | snv | 3.9E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 14 | 81145262 | 3 prime UTR variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 7 | 80656687 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.160 | 17 | 66214639 | missense variant | C/A;G | snv | 0.38; 4.0E-06; 4.0E-06 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 12 | 10882293 | missense variant | C/A;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 2 | 67897074 | intergenic variant | C/T | snv | 6.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2017 | 2017 |