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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | X | 106928709 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 8 | 30846888 | stop gained | A/C | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.926 | 27 | 2003 | 2019 | |||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.040 | 0.750 | 4 | 2004 | 2019 | |||
|
7 | 0.827 | 0.240 | 5 | 422840 | missense variant | C/G;T | snv | 0.38; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2019 | ||||
|
1 | 2 | 197756444 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 2 | 197743089 | missense variant | G/A;C | snv | 4.1E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.688 | 16 | 2005 | 2019 | |||||
|
4 | 0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2015 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.060 | 0.833 | 6 | 2006 | 2017 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 4 | 54660528 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 20 | 32791692 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 7 | 73329400 | missense variant | C/A;T | snv | 2.4E-03 | 8.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.200 | 19 | 17821329 | missense variant | T/C | snv | 0.65 | 0.70 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.060 | 0.833 | 6 | 2008 | 2017 | ||||
|
2 | 1.000 | 0.160 | X | 67685960 | missense variant | C/T | snv | 5.5E-06 | 9.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.160 | X | 67643283 | missense variant | G/A;T | snv | 1.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.160 | X | 67546570 | missense variant | C/T | snv | 1.5E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | X | 133027131 | missense variant | G/A;T | snv | 3.8E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 |