Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation ×
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: rs121434606
rs121434606 		1.000 0.320 11 114250382 missense variant A/G snv
CUI: C2676231
Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Defects, Genital Hypoplasia, And Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 0