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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.851 | 0.160 | 11 | 89277878 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 20 | 33237991 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.160 | 2 | 43326810 | intron variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 12 | 88592239 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 10 | 133543735 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
17 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 8 | 127308101 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 3 | 37474042 | intron variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 37465958 | intron variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.240 | 4 | 94641726 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 55001811 | intron variant | A/G | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 87124174 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 10 | 88967577 | intron variant | C/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 3 | 37481337 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.240 | 17 | 50196930 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |