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 | 0.080 | 8 | 133461905 | synonymous variant | C/T | snv | 0.51 | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 8 | 133475740 | synonymous variant | G/A | snv | 1.6E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.100 | 0.833 | 18 | 2012 | 2019 | |||
|
2 | 0.925 | 0.080 | 3 | 52668520 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.827 | 0.200 | 1 | 53210729 | missense variant | T/G | snv | 2.3E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 320836 | 5 prime UTR variant | C/T | snv | 0.36 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1.000 | 0.080 | 18 | 69864561 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 16 | 88824828 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 6 | 32658353 | upstream gene variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 35445639 | stop gained | G/T | snv | 9.5E-02 | 9.9E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 6 | 32609018 | intergenic variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 |