JUP, junction plakoglobin, 3728

N. diseases: 81; N. variants: 10
Disease: Naxos disease ×
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: rs113994177
rs113994177 		1.000 0.120 17 41757422 frameshift variant CA/- del
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555606936
rs1555606936 		1.000 0.120 17 41771667 frameshift variant T/- del
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs782058451
rs782058451 		0.882 0.120 17 41767386 missense variant T/C snv 2.0E-05
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs782440692
rs782440692 		1.000 0.120 17 41767494 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs782460555
rs782460555 		1.000 0.120 17 41771784 stop gained G/A;T snv 8.0E-06
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs797046139
rs797046139 		1.000 0.120 17 41758753 stop gained G/A snv
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886037753
rs886037753 		1.000 0.120 17 41769418 splice region variant C/A;T snv 4.2E-06; 4.2E-06
CUI: C1832600
Disease: Naxos disease
Naxos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0