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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 17 | 7673554 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.807 | 0.080 | 17 | 7675353 | 5 prime UTR variant | C/T | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.280 | 17 | 7674199 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
12 | 0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.742 | 0.400 | 17 | 7674890 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.732 | 0.240 | 17 | 7674951 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.280 | 17 | 7674232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
20 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |