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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.120 | 7 | 117592659 | splice donor variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 117504255 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 117592596 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117540116 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117610522 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 7 | 117664711 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117627586 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117536669 | stop gained | A/T | snv | 0.710 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 117536546 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117627548 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117603725 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117594992 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 117592649 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 117535406 | splice donor variant | -/TACA | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 7 | 117642569 | frameshift variant | -/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 79613765 | synonymous variant | A/G | snv | 9.9E-02 | 6.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 7 | 117603783 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2003 | 2016 | |||||
|
2 | 1.000 | 0.120 | 20 | 33288875 | missense variant | A/C;G | snv | 4.1E-06; 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 8 | 22164004 | missense variant | G/A | snv | 0.30 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 10 | 79612325 | synonymous variant | A/G | snv | 0.21 | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 0.700 | 1.000 | 8 | 1996 | 2017 | ||||
|
3 | 0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 0.800 | 1.000 | 35 | 1990 | 2015 |