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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 | 0.750 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 189639813 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 3 | 113197356 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 3 | 10142164 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
16 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
5 | 0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 | 0.750 | 1.000 | 2 | 2008 | 2014 | ||||
|
17 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.800 | 1.000 | 2 | 2008 | 2018 | ||||
|
5 | 0.827 | 0.160 | 5 | 1308437 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
5 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.720 | 1.000 | 1 | 2009 | 2010 | ||||
|
8 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.760 | 1.000 | 3 | 2008 | 2017 | ||||
|
6 | 0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 | 0.700 | 1.000 | 3 | 2008 | 2012 | |||
|
6 | 0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
18 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.827 | 0.160 | 6 | 29850791 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.807 | 0.280 | 6 | 30365728 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
9 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
5 | 0.827 | 0.280 | 6 | 28986516 | intron variant | G/A | snv | 5.3E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
5 | 0.827 | 0.280 | 6 | 30360062 | upstream gene variant | G/T | snv | 7.1E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
10 | 0.807 | 0.280 | 6 | 30311353 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 29012930 | intergenic variant | A/G | snv | 5.3E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.925 | 0.160 | 6 | 28869660 | intergenic variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.807 | 0.280 | 6 | 30576624 | intron variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.807 | 0.320 | 6 | 29978172 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
5 | 0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 | 0.740 | 1.000 | 2 | 2009 | 2017 |