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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.160 | 6 | 31386461 | upstream gene variant | C/T | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1 | 32014269 | missense variant | A/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
16 | 0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 4 | 94458590 | intron variant | A/G | snv | 0.37 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 19 | 49909654 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.080 | 6 | 31360768 | upstream gene variant | A/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 32014200 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |