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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1997 | 2007 | |||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.100 | 0.690 | 29 | 1999 | 2015 | ||||
|
16 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 0.100 | 0.556 | 18 | 1999 | 2017 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.100 | 0.900 | 10 | 2000 | 2018 | ||||
|
4 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 0.070 | 0.857 | 7 | 2000 | 2017 | |||
|
8 | 0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 | 0.040 | 1.000 | 4 | 2000 | 2004 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.030 | 1.000 | 3 | 2000 | 2006 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.030 | 1.000 | 3 | 2000 | 2006 | |||
|
8 | 0.776 | 0.160 | 17 | 12996585 | missense variant | C/T | snv | 3.5E-02 | 2.9E-02 | 0.090 | 0.889 | 9 | 2001 | 2010 | |||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.050 | 0.600 | 5 | 2001 | 2011 | ||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.050 | 0.600 | 5 | 2001 | 2011 | ||||
|
4 | 0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 | 0.040 | 0.500 | 4 | 2001 | 2008 | |||
|
10 | 0.763 | 0.240 | 2 | 31529325 | missense variant | C/T | snv | 4.7E-04 | 1.6E-04 | 0.020 | 1.000 | 2 | 2001 | 2005 | |||
|
2 | 0.925 | 0.080 | 9 | 78306457 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.100 | 0.708 | 24 | 2002 | 2019 | |||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.100 | 1.000 | 14 | 2002 | 2015 | |||||
|
9 | 0.776 | 0.160 | 17 | 13011692 | missense variant | G/A;C | snv | 0.27 | 0.080 | 1.000 | 8 | 2002 | 2010 | ||||
|
4 | 0.882 | 0.120 | 5 | 34004602 | missense variant | C/T | snv | 0.42 | 0.38 | 0.050 | 0.800 | 5 | 2002 | 2015 | |||
|
5 | 0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv | 0.030 | 1.000 | 3 | 2002 | 2010 | |||||
|
4 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 0.020 | 1.000 | 2 | 2002 | 2007 | ||||
|
2 | 0.925 | 0.080 | 1 | 119514623 | missense variant | C/A | snv | 0.76 | 0.020 | 1.000 | 2 | 2002 | 2007 | ||||
|
7 | 0.790 | 0.160 | 9 | 96235528 | missense variant | C/A;G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 1 | 119422598 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.080 | 17 | 12996561 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.070 | 0.857 | 7 | 2003 | 2015 |