NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Ectropion uveae ×
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: rs876657714
rs876657714 		0.882 0.200 17 31327535 stop gained C/T snv
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005