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 | 1.000 | 2 | 138013874 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 2 | 231115305 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 26273656 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 103766303 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | Y | 1642868 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 19 | 11113444 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 160042283 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 11 | 128840191 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 9 | 137106289 | stop gained | G/A | snv | 6.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 3 | 114339010 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 22 | 31277081 | missense variant | T/C | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 231116063 | intron variant | A/C;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 17 | 10525806 | missense variant | G/A | snv | 8.6E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 169170596 | missense variant | C/T | snv | 2.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 17 | 10533547 | missense variant | C/T | snv | 1.6E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | X | 18653446 | missense variant | G/A;T | snv | 8.5E-03; 5.5E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 9 | 128582740 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 6 | 131603129 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 212961166 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 3.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 19065049 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | X | 119574743 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | X | 107905581 | missense variant | A/G | snv | 1.3E-03 | 1.6E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 2 | 148947018 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |