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hg19
Examples - Variant:
21-33040861-G-C
, Gene:
TBK1
, Region:
2:166892071-166893071
115,209
NGS Samples
Phenotype:
amyotrophic lateral sclerosis
autoimmune disease
bone disease
brain malformation
cancer
cardiovascular disease
congenital disorder
control
control mild neuropsychiatric disease
covid-19
dementia
dermatological disease
diseases that affect the ear
endocrine disorder
epilepsy
febrile seizures
fetal ultrasound anomaly
gastrointestinal disease
healthy family member
hematological disease
infectious disease
intellectual disability
kidney and urological disease
liver disease
metabolic disease
neurodegenerative
nonhuman
obsessive compulsive disorder
ophthalmic disease
other
other neurodevelopmental disease
other neurological disease
other neuropsychiatric disease
primary immune deficiency
pulmonary disease
schizophrenia
sudden death
alzheimers disease
cerebral palsy
MAF:
0.01
0.005
0.001
High Quality Variant
Ultra Rare Variant
Public Available Sample
