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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.060 | 0.833 | 6 | 2006 | 2018 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.732 | 0.360 | 19 | 45364096 | missense variant | C/T | snv | 2.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.807 | 0.080 | 5 | 177512369 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 |