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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 16 | 61824185 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 10297069 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 11558705 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 18 | 75286531 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 17 | 39715810 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 52520269 | missense variant | G/A;C | snv | 8.9E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 36098180 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9 | 90828217 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 89738216 | missense variant | G/A;C | snv | 1.3E-05; 3.6E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 9 | 90828077 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 138557977 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 7 | 24717583 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 1 | 113114471 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 5 | 35072610 | missense variant | T/G | snv | 1.9E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 22 | 28695852 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 5 | 138570994 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 20 | 44355829 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 8 | 140752306 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 5 | 40887679 | intergenic variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 7670705 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 19 | 35555490 | missense variant | G/A;T | snv | 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 167024793 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |