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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
2 | 19 | 43758393 | upstream gene variant | A/G | snv | 0.33 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
2 | 3 | 196080754 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 8 | 41772887 | intron variant | G/A | snv | 0.33 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 6 | 135070962 | intron variant | C/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 16 | 88789676 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
3 | 6 | 16287961 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
7 | 1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1 | 203685993 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
2 | 1 | 158605939 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
2 | 1 | 158642758 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2012 | |||||||
|
2 | 3 | 196194440 | downstream gene variant | G/A | snv | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
3 | 6 | 135102071 | intron variant | T/C | snv | 0.33 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
7 | 6 | 135090090 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
2 | 6 | 109287294 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 17 | 44228331 | downstream gene variant | G/A | snv | 0.45 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
1 | 4 | 86970413 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 121803449 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 87143279 | downstream gene variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 87143314 | downstream gene variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 86996779 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 25658944 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 109304347 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |