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 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 152472277 | intron variant | C/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 12 | 48824388 | intron variant | A/C;G | snv | 4.7E-06; 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 3 | 52781889 | intron variant | T/C | snv | 0.49 | 0.54 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.925 | 0.040 | 3 | 52609291 | non coding transcript exon variant | A/G;T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 3 | 52693241 | missense variant | G/A | snv | 0.43 | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 3 | 52550699 | intron variant | A/G | snv | 0.42 | 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 3 | 52744331 | intron variant | T/C | snv | 0.40 | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 3 | 52766268 | synonymous variant | T/C | snv | 0.40 | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 |
|
0.720 | 1.000 | 1 | 2012 | 2013 | |||||||
|
0.925 | 0.040 | 3 | 52609669 | synonymous variant | T/C | snv | 0.39 | 0.34 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 15 | 42729788 | splice region variant | G/A;C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 7520768 | missense variant | G/A;C;T | snv | 0.18 | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 2 | 27843255 | intron variant | T/C | snv | 0.18 | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.040 | 2 | 241081801 | splice region variant | G/A | snv | 7.6E-02 | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.320 | 6 | 30814225 | non coding transcript exon variant | C/T | snv | 7.1E-02 | 8.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.040 | 21 | 28959613 | missense variant | G/A | snv | 5.7E-02 | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 17 | 8319459 | intron variant | G/T | snv | 4.9E-02 | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 9 | 108863349 | missense variant | C/G | snv | 2.3E-02 | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 13 | 75821206 | missense variant | C/T | snv | 1.7E-02 | 7.4E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 12 | 130827204 | missense variant | A/C | snv | 1.4E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |