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 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 16 | 11116590 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.925 | 0.160 | 17 | 39872867 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.160 | 17 | 39905964 | missense variant | C/T | snv | 0.43 | 0.39 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
7 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 16 | 11267345 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 4 | 102635920 | missense variant | G/A;C | snv | 0.54; 2.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 6337819 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
2 | 0.851 | 0.280 | 11 | 118871133 | regulatory region variant | C/T | snv | 0.79 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 160014208 | intron variant | C/A;T | snv | 0.41 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 118870448 | regulatory region variant | T/A;C | snv | 0.80 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 39355246 | intron variant | G/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 0.851 | 0.280 | 17 | 39765489 | 3 prime UTR variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
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 |