SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Disease: Micrognathism ×
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: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0