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 | 0.851 | 0.120 | 7 | 94409795 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 16 | 1993 | 2017 | |||||
|
3 | 0.882 | 0.120 | 17 | 50188122 | missense variant | C/T | snv | 0.710 | 1.000 | 14 | 1992 | 2017 | |||||
|
5 | 0.827 | 0.160 | 17 | 50194032 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 12 | 1993 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 50197027 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50197026 | missense variant | C/A | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50197017 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50196661 | missense variant | C/A | snv | 0.800 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50196528 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50196198 | missense variant | C/A;T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195934 | missense variant | C/A;T | snv | 2.4E-05 | 0.710 | 1.000 | 12 | 1988 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 50194134 | missense variant | G/C | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50192519 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
2 | 0.925 | 0.120 | 17 | 50191454 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50187076 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50186871 | missense variant | C/A | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 50186797 | missense variant | A/C | snv | 0.700 | 1.000 | 12 | 1988 | 2014 | |||||
|
3 | 0.882 | 0.120 | 17 | 50190099 | missense variant | C/G;T | snv | 0.700 | 1.000 | 11 | 1993 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 50197045 | missense variant | C/T | snv | 0.700 | 1.000 | 11 | 1993 | 2015 | |||||
|
3 | 0.882 | 0.120 | 7 | 94425664 | splice donor variant | G/A | snv | 0.700 | 1.000 | 11 | 1984 | 2018 | |||||
|
7 | 0.790 | 0.240 | 17 | 50195231 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 10 | 1994 | 2017 | |||||
|
3 | 0.882 | 0.120 | 7 | 94412095 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 1993 | 2016 | |||||
|
9 | 0.763 | 0.240 | 7 | 94426459 | missense variant | G/A;C | snv | 0.700 | 1.000 | 10 | 1993 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 94410278 | missense variant | G/A;T | snv | 0.700 | 1.000 | 9 | 1993 | 2018 | |||||
|
1 | 1.000 | 0.120 | 17 | 50190026 | missense variant | C/G | snv | 0.700 | 1.000 | 8 | 1988 | 2016 | |||||
|
7 | 0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 8 | 1993 | 2015 |