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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
13 | 0.790 | 0.360 | 6 | 31504943 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.160 | 6 | 32156647 | intron variant | G/C;T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.160 | 6 | 142429255 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.160 | 6 | 142349725 | intron variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.120 | 6 | 32189587 | intron variant | G/A | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.120 | 6 | 32198607 | intron variant | C/G;T | snv | 7.0E-02; 4.1E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.882 | 0.080 | 4 | 144553321 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 6 | 142545708 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.851 | 0.080 | 15 | 78559273 | regulatory region variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 1.000 | 0.040 | 4 | 144515172 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 3 | 2009 | 2010 | ||||
|
8 | 1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 1.000 | 0.040 | 4 | 144570129 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 1.000 | 0.040 | 4 | 144559628 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
6 | 1.000 | 0.040 | 4 | 144564586 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 1.000 | 0.040 | 4 | 144570851 | intron variant | T/A;C | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
5 | 1.000 | 0.040 | 10 | 12235993 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
7 | 1.000 | 0.040 | 4 | 144564763 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
5 | 1.000 | 0.040 | 4 | 144515742 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2010 |