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 | 12 | 109595148 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 1535766 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 9 | 21971116 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 12 | 32740421 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 10 | 35127641 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 21 | 25982369 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 26000017 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 53826341 | missense variant | G/A | snv | 4.6E-04 | 5.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1 | 16048352 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 19 | 53888383 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 6 | 161973365 | missense variant | A/G | snv | 1.1E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 12 | 106997986 | missense variant | A/C | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 16908042 | intron variant | C/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 16208133 | intron variant | G/T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2008 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.040 | 1.000 | 4 | 2013 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 1.000 | 4 | 2006 | 2014 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 |