Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies ×
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: rs104894055
rs104894055 		0.925 0.080 7 19117240 stop gained G/A snv
CUI: C1863370
Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies
Saethre-Chotzen Syndrome with Eyelid Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0