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 | 17 | 48923631 | intron variant | -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG | delins | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 19 | 53804069 | frameshift variant | -/AG | ins | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
1 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 5 | 59039089 | 5 prime UTR variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.200 | X | 139530726 | upstream gene variant | A/C | snv | 5.5E-06 | 1.9E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 106539495 | missense variant | A/C | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.040 | 6 | 71484004 | intergenic variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.120 | 19 | 38455359 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 12 | 87757000 | upstream gene variant | A/C;G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.280 | 5 | 59193507 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 19 | 15189325 | synonymous variant | A/C;G;T | snv | 2.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |