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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.857 | 14 | 2005 | 2019 | |||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
7 | 0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2011 | 2013 | |||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 157671893 | downstream gene variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 1 | 160471451 | TF binding site variant | G/C | snv | 0.96 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 203302802 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.200 | 1 | 113630788 | intron variant | A/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 160495121 | intron variant | C/A;G | snv | 0.96 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 157784569 | intergenic variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 100724755 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 1 | 171110939 | missense variant | G/A | snv | 8.2E-02 | 6.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 1 | 157800451 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.280 | 1 | 223111257 | missense variant | T/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 1 | 220879115 | intron variant | C/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 1 | 157674077 | downstream gene variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 157828210 | downstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 1 | 7819003 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 |