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 | 13 | 33061698 | missense variant | T/A;C | snv | 8.0E-06; 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 49648606 | missense variant | G/A;T | snv | 0.99; 1.2E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 1 | 109296296 | missense variant | C/G;T | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 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 | 1 | 2012 | 2012 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
8 | 0.827 | 0.200 | 19 | 11113589 | synonymous variant | A/G | snv | 0.63 | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.700 | 1.000 | 3 | 2009 | 2013 | |||
|
7 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 19 | 11131239 | intron variant | A/G | snv | 0.45 | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.925 | 0.080 | 1 | 109264212 | synonymous variant | C/A;T | snv | 4.0E-06; 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1 | 109264477 | synonymous variant | G/A;C | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.851 | 0.200 | 19 | 11120205 | synonymous variant | T/C | snv | 0.42 | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1 | 55052794 | splice region variant | A/G | snv | 0.42 | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 5 | 2008 | 2012 | |||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 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 | 14 | 24414681 | missense variant | G/A | snv | 0.37 | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.040 | 1 | 109272630 | non coding transcript exon variant | A/G | snv | 0.28 | 0.32 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.700 | 1.000 | 3 | 2010 | 2013 | |||
|
6 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 0.700 | 1.000 | 2 | 2010 | 2013 |