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