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 | 0.080 | 7 | 94410501 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | X | 70035527 | missense variant | T/C | snv | 1.1E-05 | 3.0E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.120 | X | 70035446 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | X | 70033470 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.160 | X | 69564858 | downstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
18 | 0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 65558307 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 17 | 65541504 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 17 | 65538235 | missense variant | T/C | snv | 7.3E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2016 | |||||
|
6 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 53822023 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 10 | 52313141 | intron variant | C/T | snv | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.080 | 17 | 50195463 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 4 | 4863149 | 3 prime UTR variant | C/T | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 4 | 4863139 | frameshift variant | -/TA | delins | 0.710 | 1.000 | 2 | 1996 | 2014 | |||||
|
2 | 0.925 | 0.080 | 4 | 4860247 | synonymous variant | C/G;T | snv | 4.8E-06; 6.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 4819581 | missense variant | G/A;C | snv | 0.15; 4.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |