GJB4, gap junction protein beta 4, 127534

N. diseases: 50; N. variants: 8
Disease: Erythrokeratodermia variabilis ×
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: rs148182439
rs148182439 		1.000 0.080 1 34761640 stop gained G/A snv 2.3E-04 9.1E-05
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80358211
rs80358211 		0.925 0.080 1 34761289 missense variant G/A snv
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009