GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Keratoderma, Palmoplantar ×
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: rs775911480
rs775911480 		1.000 0.080 13 20223257 missense variant C/T snv 2.4E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2014
dbSNP: rs1364245978
rs1364245978 		1.000 0.080 13 20222876 missense variant C/A snv 4.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010