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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 22 | 39280489 | downstream gene variant | T/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 39280739 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 104907333 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 46227357 | upstream gene variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39912261 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 20 | 8769415 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 46225962 | upstream gene variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4034827 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4033969 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4034710 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4034366 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4034017 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4034187 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 7 | 4034741 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 39915920 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.851 | 0.240 | 17 | 39781794 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.120 | 17 | 45990034 | missense variant | T/C | snv | 0.15 | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.120 | 17 | 45988044 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 4050651 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.800 | 1.000 | 4 | 2009 | 2015 | ||||
|
3 | 0.925 | 0.120 | 17 | 46025238 | 3 prime UTR variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 46025272 | 3 prime UTR variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 46025323 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 4 | 102631552 | 3 prime UTR variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2011 | 2015 |