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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
1 | 1 | 169542947 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 11 | 46728086 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 9 | 133256068 | synonymous variant | G/A | snv | 1.9E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.060 | 1.000 | 6 | 2008 | 2019 | ||||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 1.000 | 0.080 | 19 | 11105249 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
8 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
4 | 1 | 169522317 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 17 | 63490971 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 4 | 186266415 | intron variant | G/A | snv | 0.34 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.710 | 1.000 | 2 | 2010 | 2019 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 6 | 68182664 | intergenic variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.860 | 0.900 | 10 | 2011 | 2019 | ||||
|
5 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 0.830 | 1.000 | 5 | 2011 | 2019 |