NECTIN1, nectin cell adhesion molecule 1, 5818

N. diseases: 196; N. variants: 5
Disease: Ectodermal Dysplasia ×
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: rs104894281
rs104894281 		0.882 0.320 11 119677734 stop gained C/T snv
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006