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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.200 | 1 | 247417907 | intron variant | T/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | X | 134475358 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
15 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.200 | 1 | 247419919 | intron variant | C/T | snv | 0.83 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.120 | 4 | 9964756 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 5 | 2008 | 2013 | ||||
|
7 | 0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 | 0.700 | 1.000 | 4 | 2008 | 2013 | |||
|
7 | 0.851 | 0.200 | 4 | 9934286 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||
|
7 | 0.851 | 0.240 | 4 | 9933120 | intron variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2008 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 10125817 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 9982851 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10034516 | non coding transcript exon variant | C/A | snv | 0.78 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 88172856 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10004913 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10003208 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 9983382 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10080532 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 10122317 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 9973014 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2013 |