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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 3 | 56815721 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 8 | 2011 | 2019 | ||||||
|
6 | 18 | 23141009 | intron variant | G/C;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||||
|
2 | 19 | 16074749 | non coding transcript exon variant | G/A | snv | 3.9E-02 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
6 | 10 | 63267850 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
5 | 10 | 63344740 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 3 | 2012 | 2019 | ||||||
|
2 | 11 | 202856 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2014 | 2019 | ||||||
|
3 | 14 | 68958750 | intron variant | T/C | snv | 7.4E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 7 | 80606698 | intron variant | T/G | snv | 0.44 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||||
|
9 | 9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 12 | 630843 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 7 | 106718770 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
7 | 9 | 21986848 | intron variant | T/A | snv | 0.74 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||||
|
5 | 1.000 | 6 | 31354590 | non coding transcript exon variant | T/G | snv | 7.7E-02 | 2.3E-02 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 9 | 4744743 | intron variant | T/C | snv | 0.38 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
3 | 1 | 247549001 | intron variant | T/C | snv | 0.44 | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
1 | 13 | 95247462 | intron variant | C/A | snv | 0.91 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 12 | 54342686 | intron variant | A/C;G | snv | 0.68 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
2 | 10 | 63203689 | intron variant | T/C | snv | 0.43 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
2 | 11 | 243268 | non coding transcript exon variant | T/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1 | 17 | 29487478 | intron variant | C/T | snv | 0.38 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
2 | 12 | 111752634 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 12 | 6181927 | intergenic variant | G/A;T | snv | 0.33 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||||
|
3 | 3 | 18269920 | intron variant | G/A | snv | 0.81 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||||
|
1 | 3 | 184372454 | 3 prime UTR variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2016 |