Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations ×
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: rs1566225872
rs1566225872 		13 77007360 missense variant A/G snv
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries 0.700 0
dbSNP: rs374431043
rs374431043 		13 77018626 stop gained G/A;C;T snv 4.2E-06
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries 0.700 0
dbSNP: rs764008859
rs764008859 		13 77007548 frameshift variant A/- delins 7.0E-06
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries 0.700 0