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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.740 | 1.000 | 7 | 2008 | 2014 | |||||
|
5 | 0.925 | 0.080 | 15 | 78691217 | intron variant | C/A;G;T | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.080 | 15 | 78664464 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.080 | 15 | 78686022 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 15 | 78668187 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
3 | 0.925 | 0.080 | 15 | 78637030 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.925 | 0.080 | 15 | 78654291 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
3 | 0.925 | 0.080 | 15 | 78638168 | intron variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.851 | 0.080 | 15 | 78727268 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
2 | 1.000 | 0.080 | 15 | 78714100 | intron variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 15 | 78661443 | non coding transcript exon variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 15 | 78682203 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 15 | 78633676 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 15 | 78637136 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.160 | 15 | 78625057 | synonymous variant | A/G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 15 | 78628735 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |