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 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
10 | 0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
1 | 1.000 | 0.080 | 19 | 40729215 | synonymous variant | A/G | snv | 7.2E-02 | 9.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 5 | 159313842 | intron variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 12 | 109100430 | intron variant | A/G | snv | 1.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 179204642 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 67395837 | synonymous variant | C/A;G;T | snv | 0.63; 1.2E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.240 | 6 | 33670403 | synonymous variant | C/A;T | snv | 4.0E-06; 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 3 | 179214763 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.200 | 22 | 36937894 | missense variant | C/T | snv | 2.6E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 12 | 54196315 | intergenic variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 |