| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||
|
19 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
19 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 11 | 112162881 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 159997015 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.763 | 0.200 | 20 | 54169680 | synonymous variant | G/A | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 80958514 | intergenic variant | G/A | snv | 6.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.360 | 12 | 47906043 | non coding transcript exon variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.807 | 0.240 | 16 | 10906991 | missense variant | G/C | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.827 | 0.160 | 4 | 186079102 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 10900325 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 |