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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 4 | 154562556 | upstream gene variant | G/A | snv | 0.15 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.200 | 4 | 154562556 | upstream gene variant | G/A | snv | 0.15 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.200 | 4 | 154566637 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 4 | 154562157 | upstream gene variant | G/A | snv | 0.15 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 4 | 154570607 | missense variant | G/A | snv | 0.17 | 0.15 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.160 | 4 | 154568469 | synonymous variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.827 | 0.200 | 4 | 154566637 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.200 | 4 | 154566637 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 4 | 154562556 | upstream gene variant | G/A | snv | 0.15 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 154565881 | missense variant | C/T | snv | 8.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 154569191 | missense variant | T/C | snv | 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 154568456 | missense variant | C/T | snv | 2.4E-03 | 2.7E-03 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.827 | 0.200 | 4 | 154566637 | missense variant | A/G | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.120 | 4 | 154569703 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 154570463 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 154569320 | intron variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 154569800 | splice donor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 154569703 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||||||
|
0.925 | 0.120 | 4 | 154570463 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 154567688 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2000 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 154567707 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 154565985 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
0.925 | 0.080 | 4 | 154570471 | missense variant | T/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 4 | 154568469 | synonymous variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 4 | 154567772 | missense variant | C/T | snv | 4.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |