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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
8 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
34 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 6 | 14141866 | downstream gene variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 14138061 | downstream gene variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2005 | 2010 | |||
|
8 | 0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 2 | 10122697 | synonymous variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
6 | 0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 3 | 189527804 | intergenic variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.882 | 0.160 | 12 | 52286153 | 3 prime UTR variant | C/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 3 | 189638432 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
221 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |