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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 2 | 55080510 | 5 prime UTR variant | C/A | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 1.000 | 0.120 | 6 | 29942921 | missense variant | G/A | snv | 6.1E-02 | 9.0E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 11 | 72814066 | upstream gene variant | C/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 18 | 35344446 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 14 | 68295488 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 12 | 50819982 | 3 prime UTR variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 11 | 79422176 | mature miRNA variant | T/C | snv | 0.12 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 11 | 35231896 | 3 prime UTR variant | T/C | snv | 4.9E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 55050090 | missense variant | C/T | snv | 0.12 | 6.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 6 | 30204594 | intron variant | T/A | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 30119172 | intron variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.827 | 0.240 | 10 | 14383222 | mature miRNA variant | G/C;T | snv | 4.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.160 | 10 | 102392994 | upstream gene variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 |