Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 ×
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: rs387906943
rs387906943 		1.000 0.160 1 43736300 missense variant C/A snv
CUI: C1970200
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs1557612719
rs1557612719 		1.000 0.160 1 43930201 stop lost G/T snv
CUI: C1970200
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0