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 | 17 | 74703694 | intron variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2009 | 2017 | |||||||
|
8 | 1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
13 | 1.000 | 0.040 | 2 | 210678331 | 3 prime UTR variant | T/C | snv | 0.28 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 1 | 247442297 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||||
|
6 | 5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 | 0.800 | 1.000 | 2 | 2009 | 2016 | |||||
|
3 | 2 | 241357034 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
4 | 1.000 | 0.040 | 4 | 154561591 | upstream gene variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2013 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
3 | 21 | 39093586 | regulatory region variant | G/T | snv | 0.22 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
3 | 22 | 50663510 | intergenic variant | A/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
6 | 1.000 | 0.080 | 4 | 154568456 | missense variant | C/T | snv | 2.4E-03 | 2.7E-03 | 0.800 | 1.000 | 2 | 2011 | 2016 | |||
|
3 | 4 | 154567669 | synonymous variant | C/T | snv | 0.17 | 0.15 | 0.800 | 1.000 | 2 | 2009 | 2011 | |||||
|
3 | 8 | 143946999 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
4 | 5 | 132408882 | upstream gene variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 7 | 17957989 | upstream gene variant | T/C | snv | 0.46 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 5 | 132420366 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 3 | 136206349 | upstream gene variant | T/A | snv | 0.76 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 4 | 154530607 | downstream gene variant | T/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 4 | 154379907 | intron variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 2 | 102110201 | intron variant | A/G | snv | 0.62 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 15 | 50756405 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 1.000 | 0.040 | 4 | 3447925 | missense variant | G/A;T | snv | 7.5E-02; 8.3E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 4 | 154562762 | upstream gene variant | C/T | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 |