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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.923 | 13 | 2002 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.769 | 13 | 2004 | 2019 | |||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.900 | 10 | 2002 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.900 | 10 | 2002 | 2016 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.090 | 1.000 | 9 | 2012 | 2018 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.090 | 0.778 | 9 | 2005 | 2019 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.060 | 1.000 | 6 | 2015 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2012 | 2018 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.050 | 0.600 | 5 | 2008 | 2017 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.050 | 0.800 | 5 | 2012 | 2018 | |||
|
35 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.050 | 1.000 | 5 | 2012 | 2019 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.050 | 0.200 | 5 | 2012 | 2017 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 1.000 | 5 | 2011 | 2019 | |||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.050 | 1.000 | 5 | 2011 | 2017 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.040 | 1.000 | 4 | 2017 | 2018 | ||||
|
41 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.040 | 0.750 | 4 | 2011 | 2018 | ||||
|
30 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.030 | 1.000 | 3 | 2010 | 2017 | ||||
|
110 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.030 | 1.000 | 3 | 2019 | 2019 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
21 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 0.030 | 1.000 | 3 | 2015 | 2017 | ||||
|
5 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 0.030 | 1.000 | 3 | 2014 | 2016 | ||||
|
221 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
86 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.030 | 1.000 | 3 | 2015 | 2017 |