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 | 0.120 | 10 | 6054236 | intron variant | G/T | snv | 0.45 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 10 | 6054236 | intron variant | G/T | snv | 0.45 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 10 | 6045831 | intron variant | G/A | snv | 0.28 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 10 | 6045831 | intron variant | G/A | snv | 0.28 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 10 | 6025978 | missense variant | C/T | snv | 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 10 | 6025837 | missense variant | A/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||||
|
0.882 | 0.080 | 10 | 6042690 | intron variant | C/G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 6042690 | intron variant | C/G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 6042690 | intron variant | C/G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 10 | 6060049 | intron variant | C/T | snv | 0.11 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 |
|
Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 10 | 6054704 | intron variant | A/G | snv | 7.5E-02 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 10 | 6054704 | intron variant | A/G | snv | 7.5E-02 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 10 | 6053873 | intron variant | A/G | snv | 4.3E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 10 | 6053873 | intron variant | A/G | snv | 4.3E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 10 | 6053873 | intron variant | A/G | snv | 4.3E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 10 | 6011605 | 3 prime UTR variant | C/T | snv | 0.42 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
Infections; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2014 | 2014 |