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 | 0.080 | 11 | 102835973 | 3 prime UTR variant | C/T | snv | 2.0E-02 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.120 | 11 | 102838694 | synonymous variant | A/G | snv | 0.57 | 0.54 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 11 | 102843480 | missense variant | C/T | snv | 4.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 |
|
Musculoskeletal Diseases; Wounds and Injuries | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
Musculoskeletal Diseases; Wounds and Injuries | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 11 | 102836574 | non coding transcript exon variant | G/A;T | snv | 0.12; 6.7E-06 | 0.10 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
11 | 102840709 | intron variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 102840709 | intron variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |