ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
Disease: EAR, PATELLA, SHORT STATURE 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: rs143141689
rs143141689 		0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 5 2011 2015