CHN1, chimerin 1, 1123

N. diseases: 112; N. variants: 13
Disease: Duane Retraction 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: rs121912793
rs121912793 		0.925 0.120 2 174878011 missense variant A/C snv 7.0E-06
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009