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rs797044627

From SNPedia

ClinVar
Risk rs797044627(CAGTGTCTACCAACCA;CAGTGTCTACCAACCA)
Alt rs797044627(CAGTGTCTACCAACCA;CAGTGTCTACCAACCA)
Reference rs797044627(;)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31815221_31815222insTGGTTGGTAGACACTG
CLNSRC
CLNACC RCV000173670.1,