RBM28, RNA binding motif protein 28, 55131

N. diseases: 44; N. variants: 1
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome ×
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: rs118204055
rs118204055 		1.000 0.240 7 128330896 missense variant A/G snv 4.4E-05 7.0E-06
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2008 2008