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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
4 | 11 | 116791615 | synonymous variant | G/T | snv | 7.7E-02 | 0.10 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
5 | 11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.120 | 11 | 116790772 | missense variant | C/T | snv | 5.0E-02 | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 11 | 116792880 | upstream gene variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 116790097 | 3 prime UTR variant | G/A | snv | 0.19 | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 11 | 116793250 | upstream gene variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 9 | 2012 | 2019 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.800 | 1.000 | 8 | 2012 | 2019 | ||||
|
3 | 11 | 116794363 | upstream gene variant | C/T | snv | 0.17 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.800 | 1.000 | 3 | 2011 | 2018 |