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: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C4310794
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 		0.800 0
dbSNP: rs150259543
rs150259543 		1.000 4 521842 stop gained G/A snv 6.6E-04 7.1E-04
CUI: C4310794
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 		0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		Digestive System Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs372392424
rs372392424 		0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869320772
rs869320772 		1.000 4 515999 stop gained C/T snv 7.0E-06
CUI: C4310794
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 		0.700 0
dbSNP: rs869320773
rs869320773 		1.000 4 527231 splice donor variant G/C snv
CUI: C4310794
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 		0.700 0