| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 1 | 237791441 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.080 | 1 | 237441382 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 237377426 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1 | 203166324 | 3 prime UTR variant | C/T | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.120 | 1 | 237377386 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 178481702 | intergenic variant | T/A | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
7 | 17247645 | 5 prime UTR variant | A/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
7 | 17240889 | intron variant | A/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 86507057 | missense variant | T/A | snv | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
12 | 11021677 | missense variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 11037367 | intron variant | G/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 40099614 | intron variant | G/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
12 | 11092126 | missense variant | C/G | snv | 0.69 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
12 | 11091595 | missense variant | T/C | snv | 0.57 | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.827 | 0.200 | 14 | 64227153 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
0.100 | 0.909 | 11 | 2008 | 2019 |