Disease: ZIMMERMANN-LABAND SYNDROME 1 ×
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: rs730882177
rs730882177 		0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0