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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
6 | 0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 10 | 133543735 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
1 | 1.000 | 0.120 | 6 | 29952476 | upstream gene variant | A/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.240 | 6 | 29603768 | intron variant | A/C;G | snv | 3.1E-05; 0.13 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
6 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.160 | 11 | 2212344 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.160 | 11 | 69228491 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.120 | 6 | 29938914 | upstream gene variant | A/C;G;T | snv | 0.720 | 1.000 | 3 | 2010 | 2017 | |||||
|
4 | 0.851 | 0.200 | 3 | 46439310 | missense variant | A/C;G;T | snv | 0.39 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.120 | 16 | 90000528 | non coding transcript exon variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |