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 | 7 | 149851920 | non coding transcript exon variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 53470531 | intron variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 87157345 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 17 | 5110917 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44108078 | missense variant | A/G | snv | 0.71 | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 19 | 34733565 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 8 | 134599702 | non coding transcript exon variant | A/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 44925414 | 3 prime UTR variant | A/T | snv | 2.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 44952272 | intron variant | T/C | snv | 2.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 | 0.830 | 1.000 | 5 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 97728623 | intron variant | T/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 8 | 100925227 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 8 | 100949682 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.030 | 1.000 | 3 | 2007 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2008 | 2016 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.100 | 0.917 | 12 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 168441804 | synonymous variant | C/A;T | snv | 4.0E-06; 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 9585485 | synonymous variant | A/G | snv | 0.15 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 5 | 77556409 | intron variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 28563093 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 17592731 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 17593479 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 2 | 17593765 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 2622241 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |