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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 6 | 135097495 | intron variant | CTA/-;CTACTA | delins | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 16 | 172955 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 1984 | 1984 | |||||
|
1 | 1.000 | 0.080 | 16 | 172981 | synonymous variant | C/T | snv | 3.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 173123 | splice acceptor variant | A/G | snv | 3.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 173207 | missense variant | G/A;C | snv | 3.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 173246 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1979 | 1979 | |||||
|
2 | 0.925 | 0.080 | 16 | 173500 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1990 | 1990 | |||||
|
3 | 0.925 | 0.080 | 16 | 176759 | missense variant | T/A;C;Y | snv | 1.7E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 1984 | 1984 | |||
|
2 | 0.925 | 0.080 | 16 | 177056 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1979 | 1979 | |||||
|
2 | 0.925 | 0.080 | 16 | 177311 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1990 | 1990 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |