| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 12 | 13528544 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 13562374 | 3 prime UTR variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.040 | 12 | 13871835 | intron variant | A/G | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 13871204 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 12 | 13878511 | intron variant | A/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 13963180 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.200 | 12 | 13561247 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 12 | 13563704 | missense variant | G/A;T | snv | 0.40; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.040 | 12 | 13918072 | intron variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 13822364 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 13970151 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 12 | 13865843 | synonymous variant | G/C;T | snv | 0.41; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.040 | 12 | 13562968 | missense variant | G/A | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 12 | 13563360 | missense variant | T/C | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 13562883 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 13879926 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 12 | 13562977 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |