MAOA, monoamine oxidase A, 4128

N. diseases: 300; N. variants: 15
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.
dbSNP: rs1135401773
rs1135401773
1.000 0.200 X 43731325 missense variant G/A snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587777457
rs587777457
0.925 0.200 X 43731695 missense variant G/T snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs72554632
rs72554632
1.000 0.200 X 43731784 stop gained C/T snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796065311
rs796065311
1.000 0.200 X 43731344 frameshift variant -/T ins
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796065312
rs796065312
1.000 0.200 X 43683572 missense variant C/T snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0