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 | 3 | 38606034 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.925 | 0.120 | 11 | 2570722 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
10 | 0.790 | 0.080 | 3 | 38579416 | missense variant | G/A;T | snv | 1.6E-05; 5.9E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.080 | 15 | 73325378 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
7 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.120 | 7 | 150947708 | missense variant | G/C | snv | 2.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.120 | 5 | 102419940 | missense variant | G/A | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.851 | 0.120 | 3 | 38560374 | missense variant | C/G;T | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 11 | 2588801 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.120 | 11 | 2583472 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
18 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
5 | 0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 |