Disease: Blue sclera ×
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: rs1555575860
rs1555575860 		0.732 0.240 16 70496367 missense variant C/G;T snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0