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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 14 | 101562940 | 3 prime UTR variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 102157594 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.200 | 14 | 102231805 | missense variant | C/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 14 | 102250845 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 11 | 102722517 | missense variant | T/C;G | snv | 0.54 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 102795478 | missense variant | T/C | snv | 1.9E-04 | 7.7E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.120 | 11 | 102836608 | non coding transcript exon variant | C/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 11 | 102838694 | synonymous variant | A/G | snv | 0.57 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 11 | 102842734 | missense variant | A/C;G | snv | 4.0E-06; 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 1 | 102986836 | intron variant | A/C | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 103000497 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 1 | 103084077 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 12 | 104666989 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 19 | 10640062 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 107297975 | intron variant | A/C | snv | 0.20 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 107567250 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 110517489 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 111040905 | upstream gene variant | C/T | snv | 0.18 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
5 | 0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 |