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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.860 | 1.000 | 10 | 2009 | 2016 | |||||
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.850 | 1.000 | 6 | 2009 | 2015 | ||||
|
11 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 0.840 | 0.800 | 5 | 2012 | 2017 | ||||
|
9 | 0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 | 0.830 | 1.000 | 3 | 2012 | 2015 | ||||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.820 | 1.000 | 2 | 2012 | 2013 | |||||
|
2 | 1.000 | 0.080 | 9 | 97775520 | intron variant | A/C | snv | 0.72 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
6 | 0.882 | 0.080 | 9 | 97784318 | intron variant | C/T | snv | 0.71 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 217406996 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 | 0.750 | 1.000 | 6 | 2009 | 2015 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.720 | 1.000 | 3 | 2016 | 2019 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 4 | 2001 | 2018 | ||||
|
6 | 0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 | 0.710 | 1.000 | 3 | 2010 | 2015 | ||||
|
4 | 0.851 | 0.080 | 9 | 97855197 | 3 prime UTR variant | G/T | snv | 0.63 | 0.710 | 1.000 | 2 | 2009 | 2015 | ||||
|
4 | 0.851 | 0.080 | 9 | 97860315 | downstream gene variant | T/A;C;G | snv | 0.710 | 1.000 | 2 | 2009 | 2015 | |||||
|
3 | 0.882 | 0.080 | 9 | 97896036 | regulatory region variant | A/G | snv | 0.71 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 9 | 97794690 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.080 | 9 | 97874116 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 97865986 | intergenic variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 9 | 97775173 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 9 | 97876993 | TF binding site variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 217427435 | non coding transcript exon variant | C/A;G | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 233276815 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 9 | 97846400 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 97855301 | 3 prime UTR variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.827 | 0.080 | 9 | 97787746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |