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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 19 | 17837200 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.160 | 19 | 17843825 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.160 | 19 | 17838329 | missense variant | C/A;G | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 19 | 17835160 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | X | 48791260 | frameshift variant | -/ACAGCCACCGCTGCAGCTGC | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 17 | 7674895 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 8 | 125431222 | missense variant | G/A;T | snv | 1.1E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.020 | 1.000 | 2 | 2005 | 2006 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.040 | 19 | 17843406 | missense variant | G/T | snv | 6.2E-03 | 2.6E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.040 | 19 | 17834887 | missense variant | C/T | snv | 8.6E-03 | 7.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2000 | 2000 |