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 | 0.040 | 1 | 231697972 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 114537037 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 114453702 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 25909655 | non coding transcript exon variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 179703346 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 127016304 | upstream gene variant | G/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 57938951 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 57003118 | intron variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 160413483 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 145928143 | intron variant | G/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 126637591 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 25951452 | intergenic variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25934696 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25869292 | intergenic variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25912004 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 19 | 13477702 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 123551920 | intron variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 181509807 | splice region variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 7 | 41083854 | intergenic variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 115983051 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 58040631 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 25971247 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25900331 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25902259 | intergenic variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25915543 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |