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rs1064792896

From SNPedia

ClinVar
Risk rs1064792896(-;-)
Alt rs1064792896(-;-)
Reference Rs1064792896(CGAGTGCAGGCAG;CGAGTGCAGGCAG)
Significance Pathogenic
Disease Glaucoma Irido-corneo-trabecular dysgenesis
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital Irido-corneo-trabecular dysgenesis
Reversed 1
HGVS NC_000002.11:g.38298422_38298434delCTGCCTGCACTCG
CLNSRC
CLNACC RCV000477808.1,