GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
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: rs28937583
rs28937583 		0.925 0.080 1 34784863 missense variant T/C 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 2005 2005
dbSNP: rs74315315
rs74315315 		0.925 0.080 1 34784796 missense variant G/A;C snv 3.2E-05
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315316
rs74315316 		0.925 0.080 1 34784797 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 2003 2003
dbSNP: rs74315318
rs74315318 		0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315321
rs74315321 		0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002