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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 1 | 115286135 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
9 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 1.000 | 0.080 | 1 | 156866944 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 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 | 2012 | 2012 | |||
|
1 | 1 | 46429969 | upstream gene variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 1 | 186673297 | 3 prime UTR variant | A/G | snv | 0.95 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 186683820 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1 | 46399999 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 1 | 181797301 | intron variant | T/C | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 16564838 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 46420268 | TF binding site variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 156871656 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 1 | 156885826 | downstream gene variant | C/T | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.040 | 1.000 | 4 | 2010 | 2018 | |||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.020 | 1.000 | 2 | 2014 | 2016 |