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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||
|
7 | 0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 1996 | 1996 | ||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 1996 | 1996 | |||||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.020 | 1.000 | 2 | 2001 | 2001 | |||
|
9 | 0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
13 | 0.763 | 0.280 | 11 | 49156734 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
13 | 0.763 | 0.280 | 11 | 49154384 | stop gained | G/A | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
7 | 0.851 | 0.160 | X | 154536168 | missense variant | G/C | snv | 1.7E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
11 | 0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2004 | ||||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 9 | 104784371 | missense variant | C/T | snv | 2.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.925 | 0.080 | 19 | 11116197 | missense variant | A/C;G | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2002 | 2005 | ||||
|
10 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
12 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
9 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.925 | 0.080 | 3 | 186620775 | missense variant | C/T | snv | 9.0E-03 | 8.1E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
9 | 0.790 | 0.160 | 3 | 186619924 | missense variant | T/C | snv | 0.68 | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
12 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1 | 64897943 | intron variant | A/C | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
3 | 1.000 | 0.040 | 3 | 186620652 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |