FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Ectopia lentis isolated ×
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: rs25403
rs25403 		0.882 0.200 15 48613073 missense variant G/A snv
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2006 2013
dbSNP: rs137854480
rs137854480 		0.742 0.200 15 48537629 missense variant G/A snv
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs397514558
rs397514558 		0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012