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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 140926036 | upstream gene variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 140925302 | upstream gene variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.240 | 17 | 43092418 | missense variant | T/C;G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
11 | 0.763 | 0.360 | 17 | 35880776 | 5 prime UTR variant | C/T | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
21 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 28703554 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 22 | 28695186 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 22 | 28696951 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 3 | 45947356 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 20 | 54173204 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.763 | 0.200 | 20 | 54169680 | synonymous variant | G/A | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2013 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.320 | 5 | 31532531 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 |