NSUN2, NOP2/Sun RNA methyltransferase 2, 54888

N. diseases: 173; N. variants: 5
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: rs587776908
rs587776908 		1.000 0.160 5 6600195 missense variant C/T snv 1.2E-05
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2012 2012
dbSNP: rs1560982564
rs1560982564 		1.000 0.160 5 6622101 splice acceptor variant C/G snv
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387907190
rs387907190 		1.000 0.160 5 6620242 stop gained G/A snv
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387907191
rs387907191 		1.000 0.160 5 6611067 stop gained G/A snv
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs248793
rs248793 		1.000 0.080 5 6633666 synonymous variant C/G snv 0.55 0.58
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2011 2014