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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 8 | 120798309 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 1.000 | 5 | 2003 | 2015 | ||||
|
2 | 1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.080 | 5 | 1343679 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | 0.333 | 3 | 2012 | 2015 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
12 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.080 | 15 | 49536822 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 1 | 204556440 | 3 prime UTR variant | G/C;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.200 | 9 | 36110066 | synonymous variant | T/A | snv | 0.32 | 0.28 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.080 | 3 | 60210809 | intron variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.050 | 1.000 | 5 | 2003 | 2015 | |||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 0.500 | 2 | 2009 | 2019 | |||
|
3 | 1.000 | 0.080 | 16 | 78099774 | 5 prime UTR variant | C/T | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
9 | 0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 |