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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.700 | 0 | |||||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | < 0.001 | 2 | 2016 | 2019 | ||||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
Eye Diseases | 0.020 | < 0.001 | 2 | 2010 | 2016 | |||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | < 0.001 | 2 | 2010 | 2016 | |||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Eye Diseases | 0.020 | < 0.001 | 2 | 2013 | 2016 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | < 0.001 | 2 | 2013 | 2016 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Stomatognathic Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 |