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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 1 | 20638080 | missense variant | C/T | snv | 1.4E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.160 | 2 | 219421553 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 6 | 38723373 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.160 | 7 | 128845022 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 7 | 128845012 | missense variant | GC/CT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 7 | 128848926 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 7 | 128853831 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.040 | 10 | 68165803 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.040 | 11 | 111908966 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 29813487 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.120 | 19 | 55154094 | missense variant | C/A;G;T | snv | 4.0E-05 | 0.700 | 1.000 | 5 | 2003 | 2012 | ||||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.810 | 1.000 | 2 | 2003 | 2016 | ||||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2003 | 2010 | |||||
|
1 | 1.000 | 0.040 | 19 | 55154047 | missense variant | T/C | snv | 0.810 | 1.000 | 2 | 2003 | 2005 | |||||
|
2 | 0.925 | 0.040 | 19 | 55154148 | missense variant | A/G;T | snv | 0.810 | 1.000 | 2 | 2003 | 2016 | |||||
|
1 | 1.000 | 0.040 | 19 | 55154068 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 19 | 55151898 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 55154200 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.080 | 19 | 55154145 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.080 | 19 | 55154071 | missense variant | G/A;C | snv | 0.700 | 0 |