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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 101916177 | synonymous variant | A/G | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 6422408 | missense variant | G/C | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 247423230 | missense variant | G/C;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 34256238 | synonymous variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 176149024 | missense variant | T/C | snv | 3.3E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2008 | |||
|
1 | 1.000 | 0.080 | 5 | 150753600 | synonymous variant | C/T | snv | 2.7E-04 | 2.2E-04 | 0.030 | 1.000 | 3 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 19 | 38635035 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 105044573 | missense variant | C/G;T | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2008 | ||||
|
1 | 1.000 | 0.080 | 5 | 37815763 | missense variant | C/G;T | snv | 4.0E-06 | 1.4E-05 | 0.030 | 1.000 | 3 | 2002 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 1.000 | 0.080 | 5 | 151031274 | intron variant | C/T | snv | 0.66 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 14 | 20693740 | missense variant | T/C | snv | 0.020 | 0.500 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.080 | 9 | 34637419 | splice region variant | C/A;T | snv | 4.8E-03 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 29587121 | synonymous variant | T/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 21 | 31545981 | intron variant | C/T | snv | 0.14 | 0.810 | 1.000 | 2 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 55152564 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 33225611 | synonymous variant | C/T | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 119668337 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 805563 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 127476239 | intergenic variant | T/C | snv | 0.41 | 0.810 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 9 | 27490969 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 64488187 | intron variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 16342702 | 3 prime UTR variant | A/C | snv | 0.38 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 13 | 111115619 | synonymous variant | G/A;C | snv | 5.7E-06 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
1 | 1.000 | 0.080 | 21 | 44333234 | missense variant | C/A | snv | 8.0E-03 | 9.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2018 |