GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: Erythrokeratoderma ×
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: rs74315321
rs74315321 		0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999