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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.040 | 0.750 | 4 | 2005 | 2019 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.040 | 0.750 | 4 | 2005 | 2018 | |||
|
2 | 0.925 | 0.080 | 1 | 65432298 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 65419886 | upstream gene variant | G/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 65572246 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 65570758 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 1 | 65419674 | upstream gene variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 |