GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Prelingual Deafness ×
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: rs104894396
rs104894396 		0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2007 2007