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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 4 | 2010 | 2013 | ||||
|
4 | 1.000 | 0.080 | 1 | 74525960 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
6 | 1.000 | 0.080 | 19 | 33818627 | downstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
12 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
4 | 1.000 | 0.080 | 16 | 19922278 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
4 | 1.000 | 0.080 | 2 | 629244 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
7 | 1.000 | 0.080 | 19 | 45698914 | intron variant | C/T | snv | 0.17 | 0.16 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
7 | 1.000 | 0.080 | 11 | 47629441 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
4 | 1.000 | 0.080 | 13 | 27446043 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
4 | 1.000 | 0.080 | 11 | 8583046 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
7 | 1.000 | 0.080 | 18 | 60172536 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
5 | 1.000 | 0.040 | 16 | 28874338 | upstream gene variant | C/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
6 | 1.000 | 0.080 | 2 | 59075742 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
5 | 1.000 | 0.080 | 3 | 186116710 | intron variant | A/T | snv | 0.82 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
6 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 1.000 | 0.040 | 10 | 4613373 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 1.000 | 0.080 | 11 | 47641497 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 1.000 | 0.080 | 18 | 60205756 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.080 | 20 | 37754119 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 1.000 | 0.080 | 18 | 60144750 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 1.000 | 0.080 | 18 | 60161404 | upstream gene variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 |