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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.100 | 0.936 | 156 | 1996 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.914 | 70 | 1997 | 2017 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.829 | 70 | 1999 | 2018 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.100 | 0.882 | 68 | 1997 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.922 | 64 | 1997 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.903 | 62 | 2002 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.902 | 61 | 2002 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.100 | 0.932 | 59 | 1996 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.100 | 0.914 | 58 | 1998 | 2018 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.839 | 56 | 1999 | 2018 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.942 | 52 | 1996 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.100 | 0.923 | 52 | 1999 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.935 | 46 | 2001 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Mental Disorders | 0.100 | 0.841 | 44 | 1999 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms | 0.100 | 0.976 | 41 | 2002 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.950 | 40 | 1997 | 2016 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.872 | 39 | 2005 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms | 0.100 | 0.973 | 37 | 2002 | 2019 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.943 | 35 | 2001 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.100 | 0.882 | 34 | 1999 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.100 | 0.879 | 33 | 1999 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.100 | 0.938 | 32 | 1999 | 2019 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 0.938 | 32 | 1999 | 2019 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.813 | 32 | 2004 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.813 | 32 | 2004 | 2019 |