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 | 20 | 63346204 | 3 prime UTR variant | G/A;C | snv | 0.71 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 27470994 | missense variant | G/A;T | snv | 0.17 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 49621173 | intron variant | A/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 20 | 63350733 | synonymous variant | A/G | snv | 0.92 | 0.81 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 2 | 50443116 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 84849437 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84789171 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 49639951 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 232532815 | intron variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 89013167 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 6 | 88144597 | synonymous variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 8 | 42694839 | upstream gene variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 741307 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 89110472 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 87457213 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 113414400 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 89160966 | intron variant | C/G;T | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 19 | 40844742 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 11 | 113395026 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 15 | 78602096 | synonymous variant | G/A | snv | 4.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 19 | 41094989 | missense variant | G/A | snv | 1.2E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 133646263 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 89079205 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 89149212 | intron variant | T/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 84711079 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 |