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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.040 | 2 | 218401700 | synonymous variant | C/A;T | snv | 0.25 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.040 | 2 | 218403058 | synonymous variant | C/T | snv | 0.57 | 0.46 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.120 | 1 | 207569911 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.120 | 1 | 207552816 | missense variant | G/T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.080 | 9 | 21206547 | missense variant | C/A;G | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
10 | 0.776 | 0.280 | 10 | 70600631 | missense variant | G/A | snv | 2.9E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.882 | 0.040 | 19 | 18075808 | missense variant | T/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 19 | 18063921 | missense variant | C/T | snv | 1.1E-02 | 5.7E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.040 | 19 | 18069641 | missense variant | A/G | snv | 0.29 | 0.29 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 19 | 18069603 | missense variant | C/A;G;T | snv | 0.28; 3.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
3 | 0.882 | 0.080 | 16 | 50712085 | missense variant | C/G | snv | 3.2E-03 | 1.3E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.040 | 12 | 47846347 | missense variant | T/C | snv | 2.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.040 | 17 | 27783810 | intron variant | T/A | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.120 | 4 | 153688371 | non coding transcript exon variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 2 | 218381927 | upstream gene variant | TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 2 | 218387485 | intron variant | C/T | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 19 | 7744967 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 17 | 27807685 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 |