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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 19 | 55151912 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 10 | 90917732 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 14 | 23429784 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 153687341 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 10 | 20828531 | missense variant | G/A;T | snv | 7.2E-05; 2.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 6 | 38722928 | missense variant | A/C;G | snv | 4.1E-06; 8.3E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 11 | 64320661 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 22 | 19880680 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 100578527 | missense variant | C/G | snv | 1.2E-04 | 3.4E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.040 | 14 | 73211255 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 14 | 73136992 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.807 | 0.080 | 3 | 52451410 | missense variant | G/A;C;T | snv | 4.0E-05; 4.0E-06; 1.3E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 10 | 119676939 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 11 | 47335886 | missense variant | G/T | snv | 1.3E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 3 | 52451403 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 9 | 100586276 | missense variant | G/C | snv | 9.9E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 22 | 19919597 | missense variant | C/G;T | snv | 1.2E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 22 | 19918969 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 22 | 19878123 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 11 | 64321644 | missense variant | A/G | snv | 5.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |