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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2016 | ||||
|
13 | 0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
26 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
4 | 0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
11 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
12 | 0.752 | 0.400 | 3 | 179199088 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
21 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | |||||
|
2 | 1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
2 | 17 | 43063885 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2017 | |||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 6 | 152094402 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 6 | 152098779 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 6 | 152098782 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 15 | 28260829 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 17 | 39711952 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |