GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Ichthyoses ×
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: rs28929485
rs28929485 		0.807 0.320 13 20189532 missense variant G/A;C snv
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017