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 | 0.925 | 0.080 | 7 | 45914866 | missense variant | G/A | snv | 1.1E-02 | 9.9E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.925 | 0.080 | 4 | 125451587 | missense variant | G/A | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 2 | 211377000 | 3 prime UTR variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 2 | 211378286 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 64085008 | downstream gene variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 23350604 | intron variant | C/G | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 7 | 136998465 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 10 | 5960405 | missense variant | T/G | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.080 | 2 | 201387816 | missense variant | G/A;T | snv | 0.29; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.080 | 10 | 94279840 | missense variant | G/A;C | snv | 8.8E-05; 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 4 | 163148797 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 21 | 31627241 | non coding transcript exon variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 18 | 1898710 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 5 | 135894564 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.080 | 2 | 46187030 | 3 prime UTR variant | G/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 4 | 170588298 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 15 | 75355623 | 3 prime UTR variant | G/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 6 | 137868747 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 20 | 63424660 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 20 | 56232196 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94323695 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 3 | 175929377 | intergenic variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 38323957 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 2 | 237324168 | 3 prime UTR variant | T/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 |