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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.030 | 0.667 | 3 | 1995 | 1996 | |||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1999 | 1999 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.040 | 1.000 | 4 | 2000 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 1.000 | 4 | 2000 | 2012 | |||||
|
4 | 0.882 | 0.160 | 7 | 113878379 | missense variant | C/A | snv | 0.22 | 0.17 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.020 | 1.000 | 2 | 2001 | 2005 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2001 | 2005 | |||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.020 | 0.500 | 2 | 2001 | 2003 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2012 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2002 | 2006 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.030 | 1.000 | 3 | 2004 | 2009 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
5 | 0.882 | 0.080 | 13 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.882 | 0.080 | 20 | 44351879 | non coding transcript exon variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2006 | 2017 |