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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 102839465 | intron variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 1 | 107617607 | missense variant | A/C;G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.050 | 0.800 | 5 | 2009 | 2020 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
6 | 0.827 | 0.200 | 20 | 46011586 | missense variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2008 | |||||
|
2 | 0.925 | 0.040 | 9 | 127940198 | non coding transcript exon variant | A/G | snv | 0.61 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 183978614 | synonymous variant | A/G | snv | 0.58 | 0.61 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 19 | 49060867 | non coding transcript exon variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 183967746 | stop gained | A/G;T | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 2 | 32545090 | intron variant | A/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 2 | 187365606 | intron variant | A/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 107959790 | intron variant | C/A | snv | 0.62 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 81735119 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
2 | 0.925 | 0.040 | 14 | 52944673 | intron variant | C/G;T | snv | 0.720 | 1.000 | 3 | 2016 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 187394177 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 22 | 29054868 | 3 prime UTR variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 | 0.750 | 1.000 | 6 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 102927901 | intron variant | C/T | snv | 0.52 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 171644616 | intron variant | C/T | snv | 0.16 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 3 | 123150194 | intron variant | C/T | snv | 8.6E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |