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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.890 | 0.909 | 11 | 1995 | 2018 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.060 | 1.000 | 6 | 1995 | 2013 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.720 | 0.833 | 6 | 1998 | 2011 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.050 | 1.000 | 5 | 1995 | 2013 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms | 0.710 | 1.000 | 3 | 1999 | 2001 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.730 | 1.000 | 3 | 2000 | 2011 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 2 | 1999 | 2001 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2001 | 2007 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.720 | 1.000 | 2 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 4 | 1805643 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 |