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 | 12 | 2310730 | intron variant | A/T | snv | 0.82 | 0.810 | 1.000 | 4 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 66783531 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.040 | 10 | 18365098 | intron variant | A/C;G | snv | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 38703290 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 98106018 | intron variant | G/A | snv | 0.39 | 0.800 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 79351885 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 79372205 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||
|
1 | 1.000 | 0.040 | 3 | 36827948 | 3 prime UTR variant | T/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 13 | 42146563 | intron variant | G/A | snv | 0.23 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 81500549 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 42079301 | intron variant | C/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 14 | 57652478 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 121320830 | intergenic variant | A/G | snv | 0.16 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 166581772 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 49073211 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 7 | 55070695 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 40710794 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 79374802 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60311283 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 3 | 85521809 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 7546298 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 114541631 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 12 | 2679713 | synonymous variant | G/A | snv | 0.68 | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 10 | 60300624 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 |