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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 22 | 41840333 | intron variant | G/A | snv | 0.74 | 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 | ||||
|
5 | 0.882 | 0.160 | 20 | 37771178 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 1.000 | 0.080 | 20 | 37758210 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 20 | 60081096 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 0.925 | 0.120 | 19 | 45669020 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
6 | 1.000 | 0.080 | 19 | 33818627 | downstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
9 | 19 | 47065746 | 3 prime UTR variant | G/A | snv | 0.50 | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
7 | 1.000 | 0.080 | 19 | 45698914 | intron variant | C/T | snv | 0.17 | 0.16 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
6 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 19 | 33408159 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 33418804 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2014 | ||||
|
12 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
7 | 1.000 | 0.080 | 18 | 60172536 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
6 | 0.925 | 0.120 | 18 | 60184530 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 18 | 60205756 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 18 | 60006567 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 1.000 | 0.080 | 18 | 60144750 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 1.000 | 0.080 | 18 | 60161404 | upstream gene variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 |