Disease: Pendred's 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: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013