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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 4 | 94435177 | intergenic variant | G/A | snv | 0.63 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 81500549 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 161471322 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 5 | 138358306 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.964 | 28 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 42079301 | intron variant | C/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 14 | 57652478 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 121320830 | intergenic variant | A/G | snv | 0.16 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 12 | 2551994 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.040 | 19 | 19948684 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 6 | 166581772 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 6 | 98124244 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 12 | 49073211 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 1 | 7820623 | missense variant | T/G | snv | 0.17 | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 7 | 55070695 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 40710794 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 165411386 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 |