GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Congenital neurologic anomalies ×
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: rs1566528711
rs1566528711 		0.851 0.240 13 20189338 missense variant T/C snv
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0