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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 17 | 10033485 | intron variant | A/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 17 | 10058819 | intron variant | T/C | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 5 | 100726979 | intergenic variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 100893830 | missense variant | G/A;C | snv | 4.0E-06; 1.0E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 11 | 101127486 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 101243889 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 8 | 10156645 | intron variant | G/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 10161878 | upstream gene variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 12 | 102464131 | intron variant | T/C | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 8 | 10257027 | intron variant | C/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 102600993 | missense variant | G/A | snv | 1.6E-03 | 2.9E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 19 | 10269461 | intron variant | G/A | snv | 3.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 19 | 10278833 | intron variant | C/T | snv | 6.8E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 102799093 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 102840709 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 102947395 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 102949239 | intron variant | C/G | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 102959002 | upstream gene variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 10367235 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
2 | 11 | 103954382 | intron variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 10 | 104275312 | missense variant | G/A | snv | 5.6E-04 | 1.7E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 14 | 104810872 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 9 | 104826291 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 |