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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 0.050 | 0.800 | 5 | 2002 | 2019 | |||
|
5 | 0.925 | 0.080 | 19 | 10679486 | intron variant | T/C | snv | 0.76 | 0.740 | 1.000 | 4 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.810 | 1.000 | 3 | 2007 | 2018 | ||||
|
3 | 1.000 | 0.080 | 3 | 50186792 | intron variant | A/G | snv | 0.63 | 0.62 | 0.030 | 1.000 | 3 | 2009 | 2010 | |||
|
3 | 0.925 | 0.080 | 20 | 49513169 | stop gained | G/A;T | snv | 4.0E-06; 0.25 | 0.030 | 0.667 | 3 | 2002 | 2009 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671082 | synonymous variant | C/T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 1999 | 2001 | ||||
|
4 | 0.851 | 0.080 | 21 | 34226827 | intron variant | C/T | snv | 0.15 | 0.820 | 1.000 | 3 | 2009 | 2016 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 0.030 | 0.667 | 3 | 1999 | 2001 | |||||
|
3 | 0.882 | 0.080 | 15 | 99690400 | missense variant | C/T | snv | 6.1E-04 | 6.5E-04 | 0.020 | 0.500 | 2 | 2006 | 2008 | |||
|
2 | 0.925 | 0.080 | 19 | 11617987 | 3 prime UTR variant | A/G | snv | 0.24 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
5 | 0.925 | 0.080 | 13 | 113118845 | missense variant | G/A;C;T | snv | 0.13 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.080 | 6 | 169237763 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2019 | ||||
|
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 |