HCCS, holocytochrome c synthase, 3052

N. diseases: 135; N. variants: 4
Disease: Microphthalmos ×
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: rs193929392
rs193929392 		0.851 0.120 X 11118574 missense variant G/A snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007