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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.890 | 0.900 | 10 | 2009 | 2016 | |||||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.850 | 1.000 | 7 | 2012 | 2019 | ||||
|
3 | 0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 3 | 2012 | 2015 | ||||
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.820 | 1.000 | 4 | 2008 | 2013 | ||||
|
2 | 1.000 | 6 | 44626422 | intergenic variant | T/G | snv | 0.73 | 0.820 | 1.000 | 3 | 2012 | 2017 | |||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.810 | 1.000 | 6 | 2001 | 2016 | ||||
|
1 | 3 | 141080371 | non coding transcript exon variant | G/A | snv | 0.26 | 0.800 | 1.000 | 2 | 2012 | 2014 | ||||||
|
1 | 4 | 110778170 | intergenic variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 53555422 | intron variant | C/T | snv | 4.4E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 7982766 | intron variant | G/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 12 | 111774029 | intron variant | T/C | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 8035440 | intron variant | T/G | snv | 0.27 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.120 | 4 | 110796911 | non coding transcript exon variant | G/A | snv | 0.71 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 18 | 11987273 | intron variant | C/T | snv | 0.10 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 16 | 73034779 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.780 | 0.875 | 8 | 2007 | 2018 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.720 | 1.000 | 4 | 2009 | 2016 | ||||
|
5 | 0.925 | 0.080 | 14 | 61457521 | missense variant | G/A | snv | 3.1E-02 | 1.6E-02 | 0.720 | 1.000 | 3 | 2007 | 2014 | |||
|
3 | 1.000 | 0.080 | 6 | 1337158 | intergenic variant | T/A | snv | 0.14 | 0.720 | 1.000 | 2 | 2016 | 2017 | ||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.710 | 1.000 | 2 | 2010 | 2016 | ||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 13 | 110181552 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2018 | 2018 | |||||||
|
9 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 |