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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 2 | 201880120 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 8 | 140700895 | missense variant | A/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
12 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 2 | 46576601 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |