| 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 | 19 | 6746039 | missense variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||||
|
0.882 | 0.080 | 2 | 48981895 | intron variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 15 | 25032641 | non coding transcript exon variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 19 | 4651257 | intron variant | G/A | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 65964567 | 3 prime UTR variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 15 | 25036439 | non coding transcript exon variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 1 | 160025108 | 3 prime UTR variant | G/A;T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 19 | 4652810 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 1 | 241847325 | upstream gene variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 9 | 5010192 | intron variant | G/A | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 11 | 126406065 | 5 prime UTR variant | T/A;C | snv | 6.4E-06; 0.41 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.120 | 2 | 113236840 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 14 | 55145121 | missense variant | A/T | snv | 6.5E-02 | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 10 | 86522854 | non coding transcript exon variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.200 | 2 | 47373967 | missense variant | T/C | snv | 0.51 | 0.58 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 |