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 | 2 | 187446788 | intron variant | T/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 170066485 | splice region variant | A/G;T | snv | 0.57; 4.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 14 | 84159449 | intergenic variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 7982766 | intron variant | G/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 87757000 | upstream gene variant | A/C;G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 18477656 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 6 | 44627656 | regulatory region variant | C/T | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 48703312 | intron variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 12292295 | intron variant | G/A | snv | 5.6E-02 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 4 | 110791530 | upstream gene variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 80373593 | non coding transcript exon variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 36205321 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 152730385 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 49200333 | synonymous variant | T/A | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 11 | 122520479 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120156040 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 2585472 | missense variant | C/G;T | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 8035440 | intron variant | T/G | snv | 0.27 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 15 | 89188545 | intron variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 57690889 | regulatory region variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 152617280 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 36140472 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 55505279 | intron variant | C/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 97667368 | intergenic variant | C/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2015 | 2015 |