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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.730 | 1.000 | 8 | 1999 | 2018 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 5 | 1999 | 2014 | |||||
|
2 | 1.000 | 0.080 | 4 | 54736528 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 1999 | 2014 | |||||
|
2 | 0.925 | 0.080 | 4 | 54733154 | missense variant | GA/AT | mnv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 54727275 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.030 | 1.000 | 3 | 1999 | 2018 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 16 | 89919798 | synonymous variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.160 | 9 | 128566833 | synonymous variant | A/G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |