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 | 177309998 | synonymous variant | C/A | snv | 0.20 | 0.20 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 2 | 218162165 | downstream gene variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 85534925 | upstream gene variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 6026173 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 55475197 | intron variant | C/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 580902 | synonymous variant | C/G;T | snv | 0.16; 2.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 6330873 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 4 | 154604818 | 3 prime UTR variant | G/A | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 17 | 4735442 | missense variant | A/G | snv | 0.46 | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 4 | 118796479 | intron variant | A/G | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 10 | 95037104 | 3 prime UTR variant | G/A | snv | 0.22 | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 53272428 | non coding transcript exon variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 45925913 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 59896449 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 2 | 21032540 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.080 | 1 | 247672648 | missense variant | T/C | snv | 0.46 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 34710087 | 5 prime UTR variant | A/C;G | snv | 0.13; 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 54885501 | missense variant | G/A | snv | 6.9E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 1 | 3674884 | intron variant | G/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 154424940 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 13377061 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 168756241 | non coding transcript exon variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 44906613 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 20 | 23879610 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 21 | 42366262 | intron variant | G/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |