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 | 1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 9 | 72360220 | splice region variant | T/A;C | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 16 | 56973539 | intron variant | G/A | snv | 0.76; 4.0E-06 | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.700 | 1.000 | 2 | 2010 | 2012 | |||
|
2 | 8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
4 | 3 | 50091966 | intron variant | C/T | snv | 0.61 | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 5 | 2008 | 2013 | ||||
|
7 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.700 | 1.000 | 3 | 2012 | 2012 | |||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2012 | |||
|
4 | 16 | 56971389 | splice region variant | C/T | snv | 0.40 | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 1.000 | 0.040 | 19 | 44945208 | missense variant | T/A;G | snv | 3.6E-05; 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 15 | 58436945 | intron variant | C/T | snv | 0.37 | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.320 | 11 | 47260473 | missense variant | C/T | snv | 0.26 | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 16 | 67936027 | missense variant | A/G;T | snv | 0.22 | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 |