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 | 0.200 | 16 | 55491830 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2001 | 2006 | ||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 0.333 | 3 | 2017 | 2018 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 0.333 | 3 | 2017 | 2018 | |||||||
|
1.000 | 0.040 | 16 | 55478141 | intron variant | G/A;C | snv | 0.11 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2009 | 2009 | |||||||
|
0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.925 | 0.080 | 16 | 55478410 | intron variant | T/G | snv | 0.19 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2009 | 2009 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2017 | 2019 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Stomatognathic Diseases | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | < 0.001 | 2 | 2008 | 2013 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Stomatognathic Diseases | 0.720 | 1.000 | 2 | 2017 | 2018 | |||||||
|
16 | 55485759 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.925 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 16 | 55476547 | intron variant | T/G | snv | 0.55 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 16 | 55476547 | intron variant | T/G | snv | 0.55 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 16 | 55475122 | intron variant | G/A | snv | 0.20 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 16 | 55475122 | intron variant | G/A | snv | 0.20 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 16 | 55484965 | intron variant | A/G | snv | 0.31 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.200 | 16 | 55491830 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.040 | 16 | 55486666 | non coding transcript exon variant | C/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |