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 | 7 | 55143387 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 7 | 55154050 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||
|
3 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 3 | 36996639 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 224557736 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 110919162 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 43780773 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 23828453 | missense variant | T/C;G | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 17 | 7673743 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 2011 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 18 | 2011 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2005 | 2016 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2008 | 2014 | |||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.790 | 1.000 | 11 | 2010 | 2018 |