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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 4 | 971991 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 16 | 31315385 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 1 | 113891324 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 128984019 | intron variant | C/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.280 | 7 | 50597225 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.080 | 16 | 85939422 | intron variant | T/C | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 3 | 29402923 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 3 | 29404440 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.160 | 4 | 971932 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.240 | 7 | 129007888 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 70783498 | intron variant | C/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.200 | 3 | 16913767 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 6 | 34959503 | intron variant | A/G | snv | 0.47 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.160 | 7 | 28149792 | intron variant | T/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 190669646 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 |