EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
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: rs1553445945
rs1553445945 		1.000 0.080 2 108912677 splice donor variant C/T snv
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2006 2006