PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Aniridia ×
Source: CURATED ×
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: rs878852979
rs878852979 		0.925 0.080 11 31810826 splice donor variant A/T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0