GJB1, gap junction protein beta 1, 2705

N. diseases: 224; N. variants: 86
Disease: Dejerine-Sottas Disease (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: rs104894826
rs104894826 		0.882 0.080 X 71224114 missense variant T/C snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2005 2005