TUSC3, tumor suppressor candidate 3, 7991

N. diseases: 104; N. variants: 8
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 ×
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: rs1554461593
rs1554461593 		1.000 0.160 8 15623163 frameshift variant A/- delins
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387906804
rs387906804 		1.000 0.160 8 15623104 stop gained C/T snv
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0