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 | 4 | 99124423 | stop gained | T/A;C | snv | 0.78 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 6633666 | synonymous variant | C/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
1 | 1.000 | 0.080 | 6 | 29621889 | intron variant | C/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 117244053 | synonymous variant | T/A;C;G | snv | 4.0E-06; 7.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 99126778 | intron variant | G/A | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 11 | 113985959 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 51821024 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 2 | 137322384 | intron variant | G/A | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 175157287 | 3 prime UTR variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 66609892 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 117762339 | intron variant | A/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 178548873 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 11 | 113425385 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 36356711 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 56566358 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 134127023 | intergenic variant | C/A;T | snv | 3.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 9416623 | intron variant | A/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 18166901 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 154496001 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 12 | 91930196 | intergenic variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 14459666 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 16 | 53787395 | intron variant | C/T | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 38700692 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 38695896 | intron variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 38699319 | non coding transcript exon variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 |