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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
15 | 74035775 | missense variant | A/C;G | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 15 | 74038742 | intron variant | T/C | snv | 0.45 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 15 | 74039044 | intron variant | T/C | snv | 0.45 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 15 | 73994895 | missense variant | C/T | snv | 8.0E-04 | 6.7E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 15 | 73994895 | missense variant | C/T | snv | 8.0E-04 | 6.7E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 15 | 74039847 | intron variant | C/A;G;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 73998682 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 74025021 | non coding transcript exon variant | G/A;C | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 73998152 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 15 | 74044292 | missense variant | T/C;G | snv | 0.35; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
15 | 74036852 | intron variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 15 | 74035865 | missense variant | G/A;C | snv | 2.8E-05; 0.12 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 15 | 74035865 | missense variant | G/A;C | snv | 2.8E-05; 0.12 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 15 | 74035865 | missense variant | G/A;C | snv | 2.8E-05; 0.12 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 15 | 74013625 | intron variant | C/T | snv | 5.2E-02 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |