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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 7 | 99770202 | missense variant | T/A;C | snv | 4.1E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.790 | 0.200 | 4 | 99583507 | missense variant | T/C | snv | 0.25 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 4 | 99574331 | intron variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 9941975 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 4 | 9920506 | missense variant | C/T | snv | 0.25 | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.851 | 0.160 | 4 | 9914117 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 9867065 | 3 prime UTR variant | G/C | snv | 0.19; 5.6E-05 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 9866841 | 3 prime UTR variant | A/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 9834927 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 95596501 | 5 prime UTR variant | T/C;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 95593507 | intron variant | A/G | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 95591957 | intron variant | C/T | snv | 0.50 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 7 | 95589126 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 7 | 95586935 | non coding transcript exon variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2014 | 2018 | |||
|
9 | 0.776 | 0.280 | 14 | 94493715 | intron variant | T/A | snv | 0.31 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 94177906 | non coding transcript exon variant | G/A | snv | 0.93 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 11 | 92947847 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.400 | 1 | 9264154 | missense variant | C/A;T | snv | 0.12 | 8.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.020 | 1.000 | 2 | 2011 | 2019 |