Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 12 | 40278154 | missense variant | A/G | snv |
|
0.700 | 1.000 | 21 | 2004 | 2018 | ||||||||||
|
1.000 | 12 | 40299125 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 2004 | 2018 | ||||||||||
|
0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 |
|
0.800 | 1.000 | 21 | 2004 | 2018 | ||||||||
|
0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 2004 | 2018 | |||||||||
|
0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv |
|
0.800 | 1.000 | 21 | 2004 | 2018 | |||||||||
|
0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 |
|
Nervous System Diseases | 0.070 | 1.000 | 7 | 2005 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 |
|
Nervous System Diseases | 0.800 | 1.000 | 4 | 2011 | 2014 | |||||||
|
0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.040 | 1.000 | 4 | 2006 | 2014 | ||||||||
|
0.925 | 0.040 | 12 | 40309225 | missense variant | A/C | snv |
|
Nervous System Diseases | 0.040 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 |
|
Digestive System Diseases | 0.820 | 1.000 | 3 | 2008 | 2013 | |||||||
|
0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 40220632 | intron variant | C/T | snv | 0.13 |
|
Nervous System Diseases | 0.710 | 1.000 | 3 | 2014 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 40259708 | intron variant | G/A | snv | 2.4E-03 |
|
Nervous System Diseases | 0.800 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 12 | 40223890 | non coding transcript exon variant | G/A;C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 12 | 40204350 | intron variant | T/G | snv | 6.5E-02 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 12 | 40203810 | non coding transcript exon variant | A/G | snv | 6.5E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 12 | 40346421 | intron variant | T/C | snv | 3.0E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 40346421 | intron variant | T/C | snv | 3.0E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 40197315 | intron variant | A/G | snv | 0.35 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 |