EHMT1, euchromatic histone lysine methyltransferase 1, 79813
N. diseases: 371; N. variants: 41
Source: ALL
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 | 0.160 | 9 | 137779634 | splice acceptor variant | G/C | snv |
|
0.700 | 1.000 | 8 | 2005 | 2018 | |||||||||
|
9 | 137778049 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2018 | ||||||||||
|
1.000 | 9 | 137816034 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 8 | 2005 | 2018 | ||||||||
|
0.925 | 0.280 | 9 | 137743418 | stop gained | C/A;T | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.280 | 9 | 137757919 | frameshift variant | GGCACCAGGAGAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.280 | 9 | 137762702 | frameshift variant | AGAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
9 | 137753559 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.280 | 9 | 137813008 | frameshift variant | TTCT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.280 | 9 | 137716930 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.280 | 9 | 137817477 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.280 | 9 | 137817477 | stop gained | G/A | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 9 | 137818100 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 9 | 137818100 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 9 | 137743418 | stop gained | C/A;T | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 |