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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 47285034 | missense variant | G/A;C | snv | 0.26; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 11 | 47291341 | intron variant | T/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 10 | 89612776 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||
|
5 | 1.000 | 0.080 | 11 | 72721940 | 5 prime UTR variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 12 | 64830440 | missense variant | C/T | snv | 5.4E-03 | 5.3E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 15 | 70816808 | intergenic variant | C/T | snv | 0.55 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 11 | 47285079 | stop gained | C/T | snv | 3.8E-02 | 3.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 9 | 712766 | missense variant | G/A;C | snv | 3.8E-02; 1.2E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.080 | 15 | 62090956 | intergenic variant | T/C | snv | 0.55 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 17 | 2359409 | intron variant | C/A;T | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 17 | 2379485 | missense variant | G/A | snv | 1.0E-02 | 9.1E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.925 | 0.120 | 5 | 96393194 | missense variant | C/G | snv | 0.26 | 0.23 | 0.800 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 6 | 148466870 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
4 | 0.925 | 0.080 | 15 | 62104190 | intergenic variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 6 | 20664850 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 1.000 | 0.080 | 11 | 47314769 | intron variant | A/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 7 | 50690548 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 98711697 | intron variant | G/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 |