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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 4 | 23864492 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 7 | 15024301 | intergenic variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 7 | 127606849 | downstream gene variant | G/A | snv | 0.23 | 0.820 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 15020804 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.200 | 17 | 34253212 | upstream gene variant | T/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 95586935 | non coding transcript exon variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 7 | 36819038 | non coding transcript exon variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 15024591 | intergenic variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 7 | 127518569 | intergenic variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 7 | 130746210 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 7 | 121071801 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 161787246 | intron variant | A/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 48862296 | missense variant | C/A;G | snv | 4.0E-05; 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 6 | 39048860 | missense variant | C/T | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 6 | 39079018 | missense variant | G/A | snv | 1.0E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 20 | 44424278 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.160 | 6 | 151873899 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.040 | 0.500 | 4 | 1996 | 2002 | ||||
|
6 | 0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 2 | 2012 | 2018 |