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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2003 | 2009 | |||||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 1 | 153928504 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 19 | 2739698 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 1 | 153966654 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.851 | 0.200 | 2 | 179745354 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 15 | 32758222 | intergenic variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.200 | 4 | 109576918 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 15 | 63068648 | intron variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.200 | 16 | 84869111 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 1 | 228037123 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 17 | 46770948 | intron variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 13 | 68578880 | intergenic variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 19 | 2738354 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1.000 | 1 | 211596976 | regulatory region variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 15 | 26799458 | intron variant | A/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 1 | 18657203 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.851 | 0.200 | 2 | 179449268 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 5 | 69129872 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1.000 | 13 | 111997186 | intergenic variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
3 | 0.882 | 0.120 | 2 | 16552660 | splice region variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 15 | 45528960 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |