Disease: COWCHOCK SYNDROME ×
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: rs281864468
rs281864468 		1.000 0.160 X 130131770 missense variant T/A snv
CUI: C0795910
Disease: COWCHOCK SYNDROME
COWCHOCK SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2012 2015