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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 9 | 133259961 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 9 | 133259705 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 9 | 133259603 | intron variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 133255290 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
9 | 9 | 133274306 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 9 | 133259081 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 9 | 133258323 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 9 | 133258308 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 9 | 133266804 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 9 | 133272138 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 9 | 133262722 | intron variant | T/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 9 | 133271249 | intron variant | A/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 133261367 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 9 | 133256205 | missense variant | G/A;C | snv | 1.2E-05; 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 9 | 133253159 | non coding transcript exon variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 9 | 133264351 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 133263894 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 9 | 133263363 | intron variant | CACCACTACGCC/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
9 | 0.851 | 0.160 | 9 | 133262254 | intron variant | C/T | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.080 | 9 | 133260148 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 9 | 133257791 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133257647 | intron variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 |