GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) ×
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: rs121908851
rs121908851 		1.000 0.120 1 34785259 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0