PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Disease: Coloboma of optic disc ×
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: rs886037756
rs886037756 		1.000 0.080 10 100749759 frameshift variant -/GTGAACC delins
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015