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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Eye Diseases | 0.900 | 0.900 | 50 | 2006 | 2019 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 0.875 | 16 | 2007 | 2017 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.100 | 0.900 | 10 | 2007 | 2016 | ||||||||
|
1.000 | 0.200 | 10 | 122489463 | missense variant | C/G | snv |
|
Mental Disorders | 0.700 | 1.000 | 6 | 2009 | 2016 | ||||||||
|
1.000 | 0.200 | 10 | 122489463 | missense variant | C/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2009 | 2016 | ||||||||
|
0.882 | 0.040 | 10 | 122459759 | non coding transcript exon variant | C/G | snv | 0.23 |
|
Eye Diseases | 0.840 | 0.833 | 6 | 2010 | 2013 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Eye Diseases | 0.730 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Eye Diseases | 0.040 | 1.000 | 4 | 2007 | 2012 | |||||||
|
1.000 | 0.040 | 10 | 122475839 | intron variant | G/C;T | snv |
|
Eye Diseases | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.020 | 0.500 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.200 | 10 | 122506802 | missense variant | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.710 | 1.000 | 2 | 2009 | 2016 | |||||||
|
0.925 | 0.040 | 10 | 122461959 | missense variant | C/G | snv | 7.0E-06 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||||
|
1.000 | 0.040 | 10 | 122482041 | intron variant | A/G;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 10 | 122467114 | intron variant | G/A;T | snv |
|
Eye Diseases | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.851 | 0.160 | 10 | 122461166 | non coding transcript exon variant | T/C | snv | 0.49 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2012 | 2016 | |||||||
|
0.882 | 0.040 | 10 | 122459759 | non coding transcript exon variant | C/G | snv | 0.23 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
1.000 | 0.040 | 10 | 122471948 | intron variant | G/A | snv | 0.24 |
|
Eye Diseases | 0.710 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 10 | 122461959 | missense variant | C/G | snv | 7.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
10 | 122471096 | intron variant | C/A | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |