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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.200 | 16 | 3249592 | missense variant | G/C | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 22 | 17189987 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 16 | 50712108 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 22 | 17203576 | missense variant | G/A | snv | 5.2E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 16 | 3254736 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 16 | 50710956 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 16 | 3249480 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 15 | 77032888 | missense variant | G/A;C | snv | 2.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 12 | 6333376 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 16 | 50712357 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 1996 | 2013 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.090 | 1.000 | 9 | 2000 | 2019 | |||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.050 | 0.800 | 5 | 2000 | 2015 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.040 | 1.000 | 4 | 2000 | 2015 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.030 | 0.667 | 3 | 2000 | 2013 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2000 | 2013 | |||||
|
13 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2004 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.030 | 1.000 | 3 | 2001 | 2016 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.070 | 0.714 | 7 | 2003 | 2016 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2014 | ||||
|
26 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 0.020 | 1.000 | 2 | 2005 | 2017 | |||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 |