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 | 0.925 | 0.160 | 9 | 36217448 | missense variant | C/A;T | snv | 8.9E-04; 1.7E-03 | 0.810 | 1.000 | 23 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 36236864 | missense variant | C/G;T | snv | 2.8E-05 | 0.800 | 1.000 | 20 | 2001 | 2016 | ||||
|
2 | 0.925 | 0.160 | 9 | 36222839 | missense variant | G/A;T | snv | 4.8E-05; 4.0E-06 | 0.800 | 1.000 | 18 | 2001 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246118 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 15 | 2001 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 36219940 | missense variant | C/G | snv | 1.6E-05 | 0.840 | 1.000 | 14 | 2001 | 2007 | ||||
|
1 | 1.000 | 0.120 | 9 | 36222854 | missense variant | T/C | snv | 0.800 | 1.000 | 14 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36219856 | missense variant | C/T | snv | 0.800 | 1.000 | 14 | 2001 | 2008 | |||||
|
1 | 1.000 | 0.120 | 9 | 36246163 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.810 | 1.000 | 14 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 36219927 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 12 | 2001 | 2004 | ||||
|
1 | 1.000 | 0.120 | 9 | 36223405 | missense variant | G/A | snv | 0.710 | 1.000 | 12 | 2001 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 36233994 | missense variant | CA/AC | mnv | 0.800 | 1.000 | 12 | 2001 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 36246136 | missense variant | T/C | snv | 0.800 | 1.000 | 12 | 2001 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 36233985 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 12 | 2001 | 2004 | ||||
|
1 | 1.000 | 0.120 | 9 | 36249277 | missense variant | G/A | snv | 0.800 | 1.000 | 12 | 2001 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 36246049 | missense variant | T/A;C | snv | 3.6E-05; 4.0E-06 | 0.700 | 1.000 | 12 | 2001 | 2004 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246031 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2001 | 2004 | ||||
|
2 | 0.925 | 0.160 | 9 | 36227397 | missense variant | C/A;T | snv | 1.6E-04; 1.2E-05 | 0.700 | 1.000 | 6 | 2002 | 2014 | ||||
|
1 | 1.000 | 0.120 | 9 | 36246261 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.120 | 9 | 36234073 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 1.000 | 6 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.120 | 9 | 36227267 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 36249318 | missense variant | C/G | snv | 0.700 | 1.000 | 4 | 2004 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36249276 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 36222885 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 36217490 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2007 | ||||
|
1 | 1.000 | 0.120 | 9 | 36249325 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2004 | 2015 |