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rs207482233

From SNPedia

ClinVar
Risk rs207482233(GC;GC)
Alt rs207482233(GC;GC)
Reference rs207482233(TCATACAGGTCATCGCT;TCATACAGGTCATCGCT)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187122303_187122319del17insGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032548.5,