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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
11 | 0.763 | 0.080 | 17 | 65545379 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.790 | 0.080 | 17 | 78855710 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 17 | 38914448 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 18 | 52999470 | intron variant | G/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53019949 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 18 | 53020881 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53020735 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53012182 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53009439 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 53003267 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53021270 | intron variant | C/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 18 | 52991406 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53007301 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 52993157 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 52999187 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 52995196 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53008042 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 52994363 | intron variant | G/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 0.020 | < 0.001 | 2 | 2013 | 2014 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 |