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 | 2 | 231115305 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
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 | ||||||
|
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 | ||||||
|
1 | 2 | 169170596 | missense variant | C/T | snv | 2.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
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 | ||||||
|
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 | |||||
|
1 | X | 107905581 | missense variant | A/G | snv | 1.3E-03 | 1.6E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 22 | 19064948 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 207325673 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 70252139 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 114339384 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 40301333 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 21 | 21286370 | missense variant | A/G;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 2 | 138013874 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.200 | 19 | 13919876 | synonymous variant | T/C | snv | 0.27 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.120 | X | 48902470 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | X | 111142119 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 |