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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.280 | 13 | 77900593 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.320 | 13 | 77903538 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 9 | 34647858 | missense variant | C/G;T | snv | 4.0E-06; 2.5E-04 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 13 | 111300800 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 13 | 51942551 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 13 | 51939100 | missense variant | A/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 15 | 45108105 | missense variant | C/T | snv | 2.5E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
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 | |||
|
2 | 0.925 | 0.160 | 13 | 51944162 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
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 | ||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
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 | ||||
|
2 | 0.925 | 0.160 | 13 | 51941132 | missense variant | T/C | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 9 | 131144504 | missense variant | G/A | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.040 | 16 | 83783345 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | X | 131277876 | missense variant | G/A | snv | 9.3E-05 | 9.5E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 11 | 34438170 | upstream gene variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 13 | 51942481 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |