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 | 11 | 108040925 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 11 | 108046360 | synonymous variant | A/G | snv | 0.68 | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 5 | 109205522 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.925 | 2 | 109433263 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 1 | 109923705 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 12 | 123586856 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
5 | 0.925 | 7 | 125820594 | intergenic variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.925 | 7 | 126684537 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 16 | 13267554 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2014 | ||||
|
5 | 0.925 | 3 | 1383484 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 5 | 138446426 | 3 prime UTR variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 5 | 157086333 | 3 prime UTR variant | G/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.925 | 3 | 158893105 | intergenic variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 |